Canonical Allele Identifier: CA343718426
Gene: MYOC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171652185T>G , CM000663.2:g.171652185T>G GRCh38
NC_000001.10:g.171621325T>G , CM000663.1:g.171621325T>G GRCh37
NC_000001.9:g.169887948T>G NCBI36
NG_008859.1:g.5449A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.427A>C MANE Select ENSP00000037502.5:p.Ser143Arg
ENST00000638471.1:c.130+297A>C ENSP00000491206.1:n.130+297A>C
ENST00000037502.10:c.427A>C ENSP00000037502.5:p.Ser143Arg
ENST00000614688.1:c.427A>C ENSP00000478680.1:p.Ser143Arg
NM_000261.1:c.427A>C NP_000252.1:p.Ser143Arg
NM_000261.2:c.427A>C MANE Select NP_000252.1:p.Ser143Arg