Canonical Allele Identifier: CA368543463
Gene: ACTL6B HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.100244848T>A (hg19) chr7:g.100647225T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100647225T>A , CM000669.2:g.100647225T>A GRCh38
NC_000007.13:g.100244848T>A , CM000669.1:g.100244848T>A GRCh37
NC_000007.12:g.100082784T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.819A>T MANE Select ENSP00000160382.5:p.Glu273Asp
ENST00000160382.9:c.819A>T ENSP00000160382.5:p.Glu273Asp
ENST00000487125.1:n.355A>T
NM_016188.4:c.819A>T NP_057272.1:p.Glu273Asp
XR_927476.1:n.926A>T
NR_134539.1:n.926A>T
NM_016188.5:c.819A>T MANE Select NP_057272.1:p.Glu273Asp
NR_134539.2:n.913A>T
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