Canonical Allele Identifier: CA456753257
Gene: ACTL6B HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.100244675C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100647052C>T , CM000669.2:g.100647052C>T GRCh38
NC_000007.13:g.100244675C>T , CM000669.1:g.100244675C>T GRCh37
NC_000007.12:g.100082611C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.855G>A MANE Select ENSP00000160382.5:p.Glu285=
ENST00000160382.9:c.855G>A ENSP00000160382.5:p.Glu285=
ENST00000487125.1:n.417G>A
NM_016188.4:c.855G>A NP_057272.1:p.Glu285=
XR_927476.1:n.962G>A
NR_134539.1:n.962G>A
NM_016188.5:c.855G>A MANE Select NP_057272.1:p.Glu285=
NR_134539.2:n.949G>A