Canonical Allele Identifier: CA398606787
Gene: MYO15A HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.18049302G>C (hg19) chr17:g.18145988G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18145988G>C , CM000679.2:g.18145988G>C GRCh38
NC_000017.10:g.18049302G>C , CM000679.1:g.18049302G>C GRCh37
NC_000017.9:g.17990027G>C NCBI36
NG_011634.1:g.42283G>C
NG_011634.2:g.42283G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.6390G>C MANE Select ENSP00000495481.1:p.Gln2130His
ENST00000205890.9:c.6390G>C ENSP00000205890.5:p.Gln2130His
ENST00000615845.4:c.6390G>C ENSP00000481642.1:p.Gln2130His
NM_016239.3:c.6390G>C NP_057323.3:p.Gln2130His
XM_011523917.1:c.6330G>C XP_011522219.1:p.Gln2110His
XM_011523918.1:c.6330G>C XP_011522220.1:p.Gln2110His
XM_011523921.1:c.6384G>C XP_011522223.1:p.Gln2128His
XR_934037.1:n.6989G>C
XR_934038.1:n.6989G>C
XM_011523918.2:c.6330G>C XP_011522220.1:p.Gln2110His
XM_017024714.2:c.6330G>C XP_016880203.1:p.Gln2110His
XM_017024715.2:c.6393G>C XP_016880204.1:p.Gln2131His
XM_024450781.1:c.6213+1396G>C XP_024306549.1:n.6213+1396G>C
NM_016239.4:c.6390G>C MANE Select NP_057323.3:p.Gln2130His
Search 100 bp 5'
Search 100 bp 3'