Canonical Allele Identifier: CA456753325
Gene: ACTL6B HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.100244702A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100647079A>T , CM000669.2:g.100647079A>T GRCh38
NC_000007.13:g.100244702A>T , CM000669.1:g.100244702A>T GRCh37
NC_000007.12:g.100082638A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.828T>A MANE Select ENSP00000160382.5:p.Ala276=
ENST00000160382.9:c.828T>A ENSP00000160382.5:p.Ala276=
ENST00000487125.1:n.390T>A
NM_016188.4:c.828T>A NP_057272.1:p.Ala276=
XR_927476.1:n.935T>A
NR_134539.1:n.935T>A
NM_016188.5:c.828T>A MANE Select NP_057272.1:p.Ala276=
NR_134539.2:n.922T>A