Canonical Allele Identifier: CA2578963831

Gene: ACTL6B

Linked Data

• gnomAD v4: 7-100647407-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100647407G>A , CM000669.2:g.100647407G>A	GRCh38
NC_000007.13:g.100245030G>A , CM000669.1:g.100245030G>A	GRCh37
NC_000007.12:g.100082966G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000160382.10:c.759+37C>T MANE Select	ENSP00000160382.5:n.759+37C>T
ENST00000160382.9:c.759+37C>T	ENSP00000160382.5:n.759+37C>T
ENST00000487125.1:n.295+37C>T
NM_016188.4:c.759+37C>T	NP_057272.1:n.759+37C>T
XR_927476.1:n.866+37C>T
NR_134539.1:n.866+37C>T
NM_016188.5:c.759+37C>T MANE Select	NP_057272.1:n.759+37C>T
NR_134539.2:n.853+37C>T