Canonical Allele Identifier: CA368542826
Gene: ACTL6B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100646975A>G , CM000669.2:g.100646975A>G GRCh38
NC_000007.13:g.100244598A>G , CM000669.1:g.100244598A>G GRCh37
NC_000007.12:g.100082534A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.932T>C MANE Select ENSP00000160382.5:p.Val311Ala
ENST00000160382.9:c.932T>C ENSP00000160382.5:p.Val311Ala
ENST00000487125.1:n.494T>C
NM_016188.4:c.932T>C NP_057272.1:p.Val311Ala
XR_927476.1:n.1039T>C
NR_134539.1:n.1039T>C
NM_016188.5:c.932T>C MANE Select NP_057272.1:p.Val311Ala
NR_134539.2:n.1026T>C