Canonical Allele Identifier: CA299797758
Gene: LOXHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 889357
ClinVar RCV Id: RCV001123226
dbSNP Id: rs141137527
gnomAD v2: 18-44149475-T-C
gnomAD v3: 18-46569512-T-C
gnomAD v4: 18-46569512-T-C
MyVariant Identifiers: chr18:g.44149475T>C (hg19) chr18:g.46569512T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.46569512T>C , CM000680.2:g.46569512T>C GRCh38
NC_000018.9:g.44149475T>C , CM000680.1:g.44149475T>C GRCh37
NC_000018.8:g.42403473T>C NCBI36
NG_016646.1:g.92522A>G
NG_016646.2:g.92522A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000642948.1:c.2174A>G MANE Select ENSP00000496347.1:p.Asn725Ser
ENST00000335730.6:n.1487A>G
ENST00000441551.6:c.2174A>G ENSP00000387621.2:p.Asn725Ser
ENST00000536736.5:c.2174A>G ENSP00000444586.1:p.Asn725Ser
NM_144612.6:c.2174A>G NP_653213.6:p.Asn725Ser
XM_011525803.1:c.2174A>G XP_011524105.1:p.Asn725Ser
XM_011525804.1:c.335A>G XP_011524106.1:p.Asn112Ser
XM_011525804.2:c.335A>G XP_011524106.1:p.Asn112Ser
XM_017025548.1:c.2174A>G XP_016881037.1:p.Asn725Ser
XM_024451084.1:c.656A>G XP_024306852.1:p.Asn219Ser
NM_001384474.1:c.2174A>G MANE Select NP_001371403.1:p.Asn725Ser
NM_144612.7:c.2174A>G NP_653213.6:p.Asn725Ser
Search 100 bp 5'
Search 100 bp 3'