Canonical Allele Identifier: CA368543027
Gene: ACTL6B HGNC NCBI

Linked Data

ClinVar Variation Id: 2500133
ClinVar RCV Id: RCV003331529
MyVariant Identifiers: chr7:g.100244646C>T (hg19) chr7:g.100647023C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100647023C>T , CM000669.2:g.100647023C>T GRCh38
NC_000007.13:g.100244646C>T , CM000669.1:g.100244646C>T GRCh37
NC_000007.12:g.100082582C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000160382.10:c.884G>A MANE Select ENSP00000160382.5:p.Gly295Asp
ENST00000160382.9:c.884G>A ENSP00000160382.5:p.Gly295Asp
ENST00000487125.1:n.446G>A
NM_016188.4:c.884G>A NP_057272.1:p.Gly295Asp
XR_927476.1:n.991G>A
NR_134539.1:n.991G>A
NM_016188.5:c.884G>A MANE Select NP_057272.1:p.Gly295Asp
NR_134539.2:n.978G>A
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