Canonical Allele Identifier: CA398123099

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.10409445C>A , CM000679.2:g.10409445C>A GRCh38
NC_000017.10:g.10312762C>A , CM000679.1:g.10312762C>A GRCh37
NC_000017.9:g.10253487C>A NCBI36
NG_013015.1:g.17506G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000403437.2:c.1731G>T (MYH8) MANE Select ENSP00000384330.2:p.Glu577Asp
NM_002472.2:c.1731G>T (MYH8) NP_002463.2:p.Glu577Asp
NR_125367.1:n.167+3207C>A (MYHAS)
XM_011523873.1:c.1731G>T (MYH8) XP_011522175.1:p.Glu577Asp
XM_011523874.1:c.1731G>T (MYH8) XP_011522176.1:p.Glu577Asp
NM_002472.3:c.1731G>T (MYH8) MANE Select NP_002463.2:p.Glu577Asp