Canonical Allele Identifier: CA2578963752

Gene: ACTL6B

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100646533T>A , CM000669.2:g.100646533T>A	GRCh38
NC_000007.13:g.100244156T>A , CM000669.1:g.100244156T>A	GRCh37
NC_000007.12:g.100082092T>A	NCBI36
NG_007989.1:g.18A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000160382.10:c.1113+18A>T MANE Select	ENSP00000160382.5:n.1113+18A>T
ENST00000160382.9:c.1113+18A>T	ENSP00000160382.5:n.1113+18A>T
ENST00000487125.1:n.675+18A>T
NM_016188.4:c.1113+18A>T	NP_057272.1:n.1113+18A>T
XR_927476.1:n.1220+18A>T
NR_134539.1:n.1220+18A>T
NM_016188.5:c.1113+18A>T MANE Select	NP_057272.1:n.1113+18A>T
NR_134539.2:n.1207+18A>T