Canonical Allele Identifier: CA1142051866
Gene: MYOC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171652289G= , CM000663.2:g.171652289G= GRCh38
NC_000001.10:g.171621429G= , CM000663.1:g.171621429G= GRCh37
NC_000001.9:g.169888052G= NCBI36
NG_008859.1:g.5345C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.323C= MANE Select ENSP00000037502.5:p.Ala108=
ENST00000638471.1:c.130+193C= ENSP00000491206.1:n.130+193C=
ENST00000037502.10:c.323C= ENSP00000037502.5:p.Ala108=
ENST00000614688.1:c.323C= ENSP00000478680.1:p.Ala108=
NM_000261.1:c.323C= NP_000252.1:p.Ala108=
NM_000261.2:c.323C= MANE Select NP_000252.1:p.Ala108=