Canonical Allele Identifier: CA343718438
Gene: MYOC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171652191C>T , CM000663.2:g.171652191C>T GRCh38
NC_000001.10:g.171621331C>T , CM000663.1:g.171621331C>T GRCh37
NC_000001.9:g.169887954C>T NCBI36
NG_008859.1:g.5443G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.421G>A MANE Select ENSP00000037502.5:p.Ala141Thr
ENST00000638471.1:c.130+291G>A ENSP00000491206.1:n.130+291G>A
ENST00000037502.10:c.421G>A ENSP00000037502.5:p.Ala141Thr
ENST00000614688.1:c.421G>A ENSP00000478680.1:p.Ala141Thr
NM_000261.1:c.421G>A NP_000252.1:p.Ala141Thr
NM_000261.2:c.421G>A MANE Select NP_000252.1:p.Ala141Thr