Canonical Allele Identifier: CA343717945
Gene: MYOC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171652060C>G , CM000663.2:g.171652060C>G GRCh38
NC_000001.10:g.171621200C>G , CM000663.1:g.171621200C>G GRCh37
NC_000001.9:g.169887823C>G NCBI36
NG_008859.1:g.5574G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.552G>C MANE Select ENSP00000037502.5:p.Gln184His
ENST00000638471.1:c.130+422G>C ENSP00000491206.1:n.130+422G>C
ENST00000037502.10:c.552G>C ENSP00000037502.5:p.Gln184His
ENST00000614688.1:c.552G>C ENSP00000478680.1:p.Gln184His
NM_000261.1:c.552G>C NP_000252.1:p.Gln184His
NM_000261.2:c.552G>C MANE Select NP_000252.1:p.Gln184His