Canonical Allele Identifier: CA368543821
Gene: ACTL6B HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.100244898G>A (hg19) chr7:g.100647275G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100647275G>A , CM000669.2:g.100647275G>A GRCh38
NC_000007.13:g.100244898G>A , CM000669.1:g.100244898G>A GRCh37
NC_000007.12:g.100082834G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.769C>T MANE Select ENSP00000160382.5:p.Gln257Ter
ENST00000160382.9:c.769C>T ENSP00000160382.5:p.Gln257Ter
ENST00000487125.1:n.305C>T
NM_016188.4:c.769C>T NP_057272.1:p.Gln257Ter
XR_927476.1:n.876C>T
NR_134539.1:n.876C>T
NM_016188.5:c.769C>T MANE Select NP_057272.1:p.Gln257Ter
NR_134539.2:n.863C>T
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