Canonical Allele Identifier: CA1244308
Gene: MYOC HGNC NCBI

Linked Data

dbSNP Id: rs201552559

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171652367C>T , CM000663.2:g.171652367C>T GRCh38
NC_000001.10:g.171621507C>T , CM000663.1:g.171621507C>T GRCh37
NC_000001.9:g.169888130C>T NCBI36
NG_008859.1:g.5267G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.245G>A MANE Select ENSP00000037502.5:p.Arg82His
ENST00000638471.1:c.130+115G>A ENSP00000491206.1:n.130+115G>A
ENST00000037502.10:c.245G>A ENSP00000037502.5:p.Arg82His
ENST00000614688.1:c.245G>A ENSP00000478680.1:p.Arg82His
NM_000261.1:c.245G>A NP_000252.1:p.Arg82His
NM_000261.2:c.245G>A MANE Select NP_000252.1:p.Arg82His