Canonical Allele Identifier: CA2684113479
Gene: ACTL6B HGNC NCBI

Linked Data

dbSNP Id: rs1803843999
gnomAD v4: 7-100647365-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100647365C>A , CM000669.2:g.100647365C>A GRCh38
NC_000007.13:g.100244988C>A , CM000669.1:g.100244988C>A GRCh37
NC_000007.12:g.100082924C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.759+79G>T MANE Select ENSP00000160382.5:n.759+79G>T
ENST00000160382.9:c.759+79G>T ENSP00000160382.5:n.759+79G>T
ENST00000487125.1:n.295+79G>T
NM_016188.4:c.759+79G>T NP_057272.1:n.759+79G>T
XR_927476.1:n.866+79G>T
NR_134539.1:n.866+79G>T
NM_016188.5:c.759+79G>T MANE Select NP_057272.1:n.759+79G>T
NR_134539.2:n.853+79G>T
Search 100 bp 5'
Search 100 bp 3'