Canonical Allele Identifier: CA2684113495

Gene: ACTL6B

Linked Data

• gnomAD v4: 7-100647376-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100647376G>C , CM000669.2:g.100647376G>C	GRCh38
NC_000007.13:g.100244999G>C , CM000669.1:g.100244999G>C	GRCh37
NC_000007.12:g.100082935G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000160382.10:c.759+68C>G MANE Select	ENSP00000160382.5:n.759+68C>G
ENST00000160382.9:c.759+68C>G	ENSP00000160382.5:n.759+68C>G
ENST00000487125.1:n.295+68C>G
NM_016188.4:c.759+68C>G	NP_057272.1:n.759+68C>G
XR_927476.1:n.866+68C>G
NR_134539.1:n.866+68C>G
NM_016188.5:c.759+68C>G MANE Select	NP_057272.1:n.759+68C>G
NR_134539.2:n.853+68C>G