Canonical Allele Identifier: CA368542735
Gene: ACTL6B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100646821C>A , CM000669.2:g.100646821C>A GRCh38
NC_000007.13:g.100244444C>A , CM000669.1:g.100244444C>A GRCh37
NC_000007.12:g.100082380C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.947G>T MANE Select ENSP00000160382.5:p.Gly316Val
ENST00000160382.9:c.947G>T ENSP00000160382.5:p.Gly316Val
ENST00000487125.1:n.509G>T
NM_016188.4:c.947G>T NP_057272.1:p.Gly316Val
XR_927476.1:n.1054G>T
NR_134539.1:n.1054G>T
NM_016188.5:c.947G>T MANE Select NP_057272.1:p.Gly316Val
NR_134539.2:n.1041G>T