Canonical Allele Identifier: CA2715376766

Gene: ACTL6B

Linked Data

• dbSNP Id: rs1803835522

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100646966C>T , CM000669.2:g.100646966C>T	GRCh38
NC_000007.13:g.100244589C>T , CM000669.1:g.100244589C>T	GRCh37
NC_000007.12:g.100082525C>T	NCBI36

Transcript Alleles

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