Canonical Allele Identifier: CA343718447
Gene: MYOC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171652196T>A , CM000663.2:g.171652196T>A GRCh38
NC_000001.10:g.171621336T>A , CM000663.1:g.171621336T>A GRCh37
NC_000001.9:g.169887959T>A NCBI36
NG_008859.1:g.5438A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.416A>T MANE Select ENSP00000037502.5:p.Glu139Val
ENST00000638471.1:c.130+286A>T ENSP00000491206.1:n.130+286A>T
ENST00000037502.10:c.416A>T ENSP00000037502.5:p.Glu139Val
ENST00000614688.1:c.416A>T ENSP00000478680.1:p.Glu139Val
NM_000261.1:c.416A>T NP_000252.1:p.Glu139Val
NM_000261.2:c.416A>T MANE Select NP_000252.1:p.Glu139Val