Canonical Allele Identifier: CA2839221289

Gene: ACTL6B

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100646915C>A , CM000669.2:g.100646915C>A	GRCh38
NC_000007.13:g.100244538C>A , CM000669.1:g.100244538C>A	GRCh37
NC_000007.12:g.100082474C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000160382.10:c.936+56G>T MANE Select	ENSP00000160382.5:n.936+56G>T
ENST00000160382.9:c.936+56G>T	ENSP00000160382.5:n.936+56G>T
ENST00000487125.1:n.498+56G>T
NM_016188.4:c.936+56G>T	NP_057272.1:n.936+56G>T
XR_927476.1:n.1043+56G>T
NR_134539.1:n.1043+56G>T
NM_016188.5:c.936+56G>T MANE Select	NP_057272.1:n.936+56G>T
NR_134539.2:n.1030+56G>T