Canonical Allele Identifier: CA8393340
Community Standard Title: NM_002470.4(MYH3):c.347A>G (p.Tyr116Cys)
Gene: MYH3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.10652421T>C , CM000679.2:g.10652421T>C GRCh38
NC_000017.10:g.10555738T>C , CM000679.1:g.10555738T>C GRCh37
NC_000017.9:g.10496463T>C NCBI36
NG_011537.1:g.9878A>G

Transcript Alleles

HGVS Amino-acid Change
NM_002470.4:c.347A>G MANE Select NP_002461.2:p.Tyr116Cys
ENST00000583535.6:c.347A>G MANE Select ENSP00000464317.1:p.Tyr116Cys
NM_002470.3:c.347A>G NP_002461.2:p.Tyr116Cys
ENST00000582580.1:n.435A>G
ENST00000583535.5:c.347A>G ENSP00000464317.1:p.Tyr116Cys
XM_011523870.1:c.347A>G XP_011522172.1:p.Tyr116Cys
XM_011523870.3:c.347A>G XP_011522172.1:p.Tyr116Cys
XM_011523871.1:c.347A>G XP_011522173.1:p.Tyr116Cys
XM_011523871.2:c.347A>G XP_011522173.1:p.Tyr116Cys
XM_011523872.1:c.347A>G XP_011522174.1:p.Tyr116Cys