Canonical Allele Identifier: CA2578963802

Gene: ACTL6B

Linked Data

• dbSNP Id: rs1803839070
• gnomAD v4: 7-100647139-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100647139T>C , CM000669.2:g.100647139T>C	GRCh38
NC_000007.13:g.100244762T>C , CM000669.1:g.100244762T>C	GRCh37
NC_000007.12:g.100082698T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000160382.10:c.822-54A>G MANE Select	ENSP00000160382.5:n.822-54A>G
ENST00000160382.9:c.822-54A>G	ENSP00000160382.5:n.822-54A>G
ENST00000487125.1:n.358-28A>G
NM_016188.4:c.822-54A>G	NP_057272.1:n.822-54A>G
XR_927476.1:n.929-54A>G
NR_134539.1:n.929-54A>G
NM_016188.5:c.822-54A>G MANE Select	NP_057272.1:n.822-54A>G
NR_134539.2:n.916-54A>G