Canonical Allele Identifier: CA368542366
Gene: ACTL6B HGNC NCBI

Linked Data

ClinVar Variation Id: 430804
dbSNP Id: rs1131692228

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100646637C>T , CM000669.2:g.100646637C>T GRCh38
NC_000007.13:g.100244260C>T , CM000669.1:g.100244260C>T GRCh37
NC_000007.12:g.100082196C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.1027G>A MANE Select ENSP00000160382.5:p.Gly343Arg
ENST00000160382.9:c.1027G>A ENSP00000160382.5:p.Gly343Arg
ENST00000487125.1:n.589G>A
NM_016188.4:c.1027G>A NP_057272.1:p.Gly343Arg
XR_927476.1:n.1134G>A
NR_134539.1:n.1134G>A
NM_016188.5:c.1027G>A MANE Select NP_057272.1:p.Gly343Arg
NR_134539.2:n.1121G>A