Canonical Allele Identifier: CA398122680

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.10409164T>G , CM000679.2:g.10409164T>G GRCh38
NC_000017.10:g.10312481T>G , CM000679.1:g.10312481T>G GRCh37
NC_000017.9:g.10253206T>G NCBI36
NG_013015.1:g.17787A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000403437.2:c.1898A>C (MYH8) MANE Select ENSP00000384330.2:p.Asp633Ala
NM_002472.2:c.1898A>C (MYH8) NP_002463.2:p.Asp633Ala
NR_125367.1:n.167+2926T>G (MYHAS)
XM_011523873.1:c.1898A>C (MYH8) XP_011522175.1:p.Asp633Ala
XM_011523874.1:c.1898A>C (MYH8) XP_011522176.1:p.Asp633Ala
NM_002472.3:c.1898A>C (MYH8) MANE Select NP_002463.2:p.Asp633Ala