Canonical Allele Identifier: CA2578963768

Gene: ACTL6B

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100646742T>C , CM000669.2:g.100646742T>C	GRCh38
NC_000007.13:g.100244365T>C , CM000669.1:g.100244365T>C	GRCh37
NC_000007.12:g.100082301T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000160382.10:c.1017+9A>G MANE Select	ENSP00000160382.5:n.1017+9A>G
ENST00000160382.9:c.1017+9A>G	ENSP00000160382.5:n.1017+9A>G
ENST00000487125.1:n.579+9A>G
NM_016188.4:c.1017+9A>G	NP_057272.1:n.1017+9A>G
XR_927476.1:n.1124+9A>G
NR_134539.1:n.1124+9A>G
NM_016188.5:c.1017+9A>G MANE Select	NP_057272.1:n.1017+9A>G
NR_134539.2:n.1111+9A>G