Canonical Allele Identifier: CA32666917
Gene: MYOC HGNC NCBI

Linked Data

dbSNP Id: rs1029637512

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171652563C>T , CM000663.2:g.171652563C>T GRCh38
NC_000001.10:g.171621703C>T , CM000663.1:g.171621703C>T GRCh37
NC_000001.9:g.169888326C>T NCBI36
NG_008859.1:g.5071G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.49G>A MANE Select ENSP00000037502.5:p.Ala17Thr
ENST00000638471.1:c.49G>A ENSP00000491206.1:p.Ala17Thr
ENST00000037502.10:c.49G>A ENSP00000037502.5:p.Ala17Thr
ENST00000614688.1:c.49G>A ENSP00000478680.1:p.Ala17Thr
NM_000261.1:c.49G>A NP_000252.1:p.Ala17Thr
NM_000261.2:c.49G>A MANE Select NP_000252.1:p.Ala17Thr