Canonical Allele Identifier: CA2578963830

Gene: ACTL6B

Linked Data

• gnomAD v4: 7-100647395-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100647395A>C , CM000669.2:g.100647395A>C	GRCh38
NC_000007.13:g.100245018A>C , CM000669.1:g.100245018A>C	GRCh37
NC_000007.12:g.100082954A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000160382.10:c.759+49T>G MANE Select	ENSP00000160382.5:n.759+49T>G
ENST00000160382.9:c.759+49T>G	ENSP00000160382.5:n.759+49T>G
ENST00000487125.1:n.295+49T>G
NM_016188.4:c.759+49T>G	NP_057272.1:n.759+49T>G
XR_927476.1:n.866+49T>G
NR_134539.1:n.866+49T>G
NM_016188.5:c.759+49T>G MANE Select	NP_057272.1:n.759+49T>G
NR_134539.2:n.853+49T>G