Canonical Allele Identifier: CA368542206
Gene: ACTL6B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100646583G>T , CM000669.2:g.100646583G>T GRCh38
NC_000007.13:g.100244206G>T , CM000669.1:g.100244206G>T GRCh37
NC_000007.12:g.100082142G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.1081C>A MANE Select ENSP00000160382.5:p.Leu361Ile
ENST00000160382.9:c.1081C>A ENSP00000160382.5:p.Leu361Ile
ENST00000487125.1:n.643C>A
NM_016188.4:c.1081C>A NP_057272.1:p.Leu361Ile
XR_927476.1:n.1188C>A
NR_134539.1:n.1188C>A
NM_016188.5:c.1081C>A MANE Select NP_057272.1:p.Leu361Ile
NR_134539.2:n.1175C>A