Canonical Allele Identifier: CA2300879798
Gene: LOXHD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.46541082A>G , CM000680.2:g.46541082A>G GRCh38
NC_000018.9:g.44121045A>G , CM000680.1:g.44121045A>G GRCh37
NC_000018.8:g.42375043A>G NCBI36
NG_016646.1:g.120952T>C
NG_016646.2:g.120952T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000300591.11:c.580+694T>C ENSP00000300591.6:n.580+694T>C
ENST00000579038.6:c.292+694T>C ENSP00000463285.1:n.292+694T>C
ENST00000582408.6:c.580+694T>C ENSP00000461964.1:n.580+694T>C
ENST00000642948.1:c.3913+694T>C MANE Select ENSP00000496347.1:n.3913+694T>C
ENST00000300591.10:c.580+694T>C ENSP00000300591.6:n.580+694T>C
ENST00000335730.6:n.3226+694T>C
ENST00000441551.6:c.3295+694T>C ENSP00000387621.2:n.3295+694T>C
ENST00000536111.1:c.619+694T>C ENSP00000440060.1:n.619+694T>C
ENST00000536736.5:c.3913+694T>C ENSP00000444586.1:n.3913+694T>C
ENST00000579038.5:c.292+694T>C ENSP00000463285.1:n.292+694T>C
ENST00000582408.5:c.580+694T>C ENSP00000461964.1:n.580+694T>C
NM_001145472.2:c.580+694T>C NP_001138944.1:n.580+694T>C
NM_001308013.1:c.292+694T>C NP_001294942.1:n.292+694T>C
NM_144612.6:c.3913+694T>C NP_653213.6:n.3913+694T>C
XM_006722388.2:c.712+694T>C XP_006722451.1:n.712+694T>C
XM_006722389.2:c.580+694T>C XP_006722452.1:n.580+694T>C
XM_006722390.2:c.580+694T>C XP_006722453.1:n.580+694T>C
XM_006722391.2:c.712+694T>C XP_006722454.1:n.712+694T>C
XM_011525803.1:c.3913+694T>C XP_011524105.1:n.3913+694T>C
XM_011525804.1:c.2074+694T>C XP_011524106.1:n.2074+694T>C
XM_011525805.1:c.577+694T>C XP_011524107.1:n.577+694T>C
XM_011525806.1:c.292+694T>C XP_011524108.1:n.292+694T>C
XM_011525807.1:c.292+694T>C XP_011524109.1:n.292+694T>C
XM_011525809.1:c.292+694T>C XP_011524111.1:n.292+694T>C
XM_006722388.3:c.712+694T>C XP_006722451.1:n.712+694T>C
XM_006722389.3:c.580+694T>C XP_006722452.1:n.580+694T>C
XM_006722390.3:c.580+694T>C XP_006722453.1:n.580+694T>C
XM_006722391.3:c.712+694T>C XP_006722454.1:n.712+694T>C
XM_011525804.2:c.2074+694T>C XP_011524106.1:n.2074+694T>C
XM_017025548.1:c.3295+694T>C XP_016881037.1:n.3295+694T>C
XM_024451084.1:c.2395+694T>C XP_024306852.1:n.2395+694T>C
XM_024451085.1:c.577+694T>C XP_024306853.1:n.577+694T>C
XM_024451086.1:c.292+694T>C XP_024306854.1:n.292+694T>C
XM_024451087.1:c.292+694T>C XP_024306855.1:n.292+694T>C
XM_024451088.1:c.292+694T>C XP_024306856.1:n.292+694T>C
NM_001145472.3:c.580+694T>C NP_001138944.1:n.580+694T>C
NM_001308013.2:c.292+694T>C NP_001294942.1:n.292+694T>C
NM_001384474.1:c.3913+694T>C MANE Select NP_001371403.1:n.3913+694T>C
NM_144612.7:c.3913+694T>C NP_653213.6:n.3913+694T>C