Canonical Allele Identifier: CA343719592
Gene: MYOC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171652467A>C , CM000663.2:g.171652467A>C GRCh38
NC_000001.10:g.171621607A>C , CM000663.1:g.171621607A>C GRCh37
NC_000001.9:g.169888230A>C NCBI36
NG_008859.1:g.5167T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.145T>G MANE Select ENSP00000037502.5:p.Tyr49Asp
ENST00000638471.1:c.130+15T>G ENSP00000491206.1:n.130+15T>G
ENST00000037502.10:c.145T>G ENSP00000037502.5:p.Tyr49Asp
ENST00000614688.1:c.145T>G ENSP00000478680.1:p.Tyr49Asp
NM_000261.1:c.145T>G NP_000252.1:p.Tyr49Asp
NM_000261.2:c.145T>G MANE Select NP_000252.1:p.Tyr49Asp