Canonical Allele Identifier: CA368543362
Gene: ACTL6B HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.100244706A>T (hg19) chr7:g.100647083A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100647083A>T , CM000669.2:g.100647083A>T GRCh38
NC_000007.13:g.100244706A>T , CM000669.1:g.100244706A>T GRCh37
NC_000007.12:g.100082642A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.824T>A MANE Select ENSP00000160382.5:p.Val275Glu
ENST00000160382.9:c.824T>A ENSP00000160382.5:p.Val275Glu
ENST00000487125.1:n.386T>A
NM_016188.4:c.824T>A NP_057272.1:p.Val275Glu
XR_927476.1:n.931T>A
NR_134539.1:n.931T>A
NM_016188.5:c.824T>A MANE Select NP_057272.1:p.Val275Glu
NR_134539.2:n.918T>A
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