Canonical Allele Identifier: CA368543884
Gene: ACTL6B HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.100244907C>T (hg19) chr7:g.100647284C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100647284C>T , CM000669.2:g.100647284C>T GRCh38
NC_000007.13:g.100244907C>T , CM000669.1:g.100244907C>T GRCh37
NC_000007.12:g.100082843C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.760G>A MANE Select ENSP00000160382.5:p.Glu254Lys
ENST00000160382.9:c.760G>A ENSP00000160382.5:p.Glu254Lys
ENST00000487125.1:n.296G>A
NM_016188.4:c.760G>A NP_057272.1:p.Glu254Lys
XR_927476.1:n.867G>A
NR_134539.1:n.867G>A
NM_016188.5:c.760G>A MANE Select NP_057272.1:p.Glu254Lys
NR_134539.2:n.854G>A
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