Canonical Allele Identifier: CA16609516
Gene: ACTL6B HGNC NCBI

Linked Data

ClinVar Variation Id: 402140
dbSNP Id: rs1060499738

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100647014C>T , CM000669.2:g.100647014C>T GRCh38
NC_000007.13:g.100244637C>T , CM000669.1:g.100244637C>T GRCh37
NC_000007.12:g.100082573C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000160382.10:c.893G>A MANE Select ENSP00000160382.5:p.Arg298Gln
ENST00000160382.9:c.893G>A ENSP00000160382.5:p.Arg298Gln
ENST00000487125.1:n.455G>A
NM_016188.4:c.893G>A NP_057272.1:p.Arg298Gln
XR_927476.1:n.1000G>A
NR_134539.1:n.1000G>A
NM_016188.5:c.893G>A MANE Select NP_057272.1:p.Arg298Gln
NR_134539.2:n.987G>A