Canonical Allele Identifier: CA2578963822
Gene: ACTL6B HGNC NCBI

Linked Data

dbSNP Id: rs2131333913
gnomAD v4: 7-100647363-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100647363C>A , CM000669.2:g.100647363C>A GRCh38
NC_000007.13:g.100244986C>A , CM000669.1:g.100244986C>A GRCh37
NC_000007.12:g.100082922C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.760-79G>T MANE Select ENSP00000160382.5:n.760-79G>T
ENST00000160382.9:c.760-79G>T ENSP00000160382.5:n.760-79G>T
ENST00000487125.1:n.296-79G>T
NM_016188.4:c.760-79G>T NP_057272.1:n.760-79G>T
XR_927476.1:n.867-79G>T
NR_134539.1:n.867-79G>T
NM_016188.5:c.760-79G>T MANE Select NP_057272.1:n.760-79G>T
NR_134539.2:n.854-79G>T
Search 100 bp 5'
Search 100 bp 3'