Canonical Allele Identifier: CA2539406233
Gene: MYOC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171651928G>A , CM000663.2:g.171651928G>A GRCh38
NC_000001.10:g.171621068G>A , CM000663.1:g.171621068G>A GRCh37
NC_000001.9:g.169887691G>A NCBI36
NG_008859.1:g.5706C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.604+80C>T MANE Select ENSP00000037502.5:n.604+80C>T
ENST00000638471.1:c.130+554C>T ENSP00000491206.1:n.130+554C>T
ENST00000037502.10:c.604+80C>T ENSP00000037502.5:n.604+80C>T
ENST00000614688.1:c.604+80C>T ENSP00000478680.1:n.604+80C>T
NM_000261.1:c.604+80C>T NP_000252.1:n.604+80C>T
NM_000261.2:c.604+80C>T MANE Select NP_000252.1:n.604+80C>T