Canonical Allele Identifier: CA398122670

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.10409162T>G , CM000679.2:g.10409162T>G GRCh38
NC_000017.10:g.10312479T>G , CM000679.1:g.10312479T>G GRCh37
NC_000017.9:g.10253204T>G NCBI36
NG_013015.1:g.17789A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000403437.2:c.1900A>C (MYH8) MANE Select ENSP00000384330.2:p.Ser634Arg
NM_002472.2:c.1900A>C (MYH8) NP_002463.2:p.Ser634Arg
NR_125367.1:n.167+2924T>G (MYHAS)
XM_011523873.1:c.1900A>C (MYH8) XP_011522175.1:p.Ser634Arg
XM_011523874.1:c.1900A>C (MYH8) XP_011522176.1:p.Ser634Arg
NM_002472.3:c.1900A>C (MYH8) MANE Select NP_002463.2:p.Ser634Arg