Canonical Allele Identifier: CA398136862
Gene: MYH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 522656
ClinVar RCV Id: RCV000625795
dbSNP Id: rs1555525264

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.10632606C>T , CM000679.2:g.10632606C>T GRCh38
NC_000017.10:g.10535923C>T , CM000679.1:g.10535923C>T GRCh37
NC_000017.9:g.10476648C>T NCBI36
NG_011537.1:g.29693G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000583535.6:c.4826G>A MANE Select ENSP00000464317.1:p.Arg1609Lys
ENST00000583535.5:c.4826G>A ENSP00000464317.1:p.Arg1609Lys
NM_002470.3:c.4826G>A NP_002461.2:p.Arg1609Lys
XM_011523870.1:c.4826G>A XP_011522172.1:p.Arg1609Lys
XM_011523871.1:c.4826G>A XP_011522173.1:p.Arg1609Lys
XM_011523870.3:c.4826G>A XP_011522172.1:p.Arg1609Lys
XM_011523871.2:c.4826G>A XP_011522173.1:p.Arg1609Lys
NM_002470.4:c.4826G>A MANE Select NP_002461.2:p.Arg1609Lys