Canonical Allele Identifier: CA456753443
Gene: ACTL6B HGNC NCBI

Linked Data

dbSNP Id: rs1165490554
gnomAD v4: 7-100647240-G-A
MyVariant Identifiers: chr7:g.100244863G>A (hg19) chr7:g.100647240G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100647240G>A , CM000669.2:g.100647240G>A GRCh38
NC_000007.13:g.100244863G>A , CM000669.1:g.100244863G>A GRCh37
NC_000007.12:g.100082799G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.804C>T MANE Select ENSP00000160382.5:p.Asp268=
ENST00000160382.9:c.804C>T ENSP00000160382.5:p.Asp268=
ENST00000487125.1:n.340C>T
NM_016188.4:c.804C>T NP_057272.1:p.Asp268=
XR_927476.1:n.911C>T
NR_134539.1:n.911C>T
NM_016188.5:c.804C>T MANE Select NP_057272.1:p.Asp268=
NR_134539.2:n.898C>T
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