Canonical Allele Identifier: CA1105051890
Gene: ACTL6B HGNC NCBI

Linked Data

dbSNP Id: rs1803844682
gnomAD v3: 7-100647391-C-T
gnomAD v4: 7-100647391-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100647391C>T , CM000669.2:g.100647391C>T GRCh38
NC_000007.13:g.100245014C>T , CM000669.1:g.100245014C>T GRCh37
NC_000007.12:g.100082950C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.759+53G>A MANE Select ENSP00000160382.5:n.759+53G>A
ENST00000160382.9:c.759+53G>A ENSP00000160382.5:n.759+53G>A
ENST00000487125.1:n.295+53G>A
NM_016188.4:c.759+53G>A NP_057272.1:n.759+53G>A
XR_927476.1:n.866+53G>A
NR_134539.1:n.866+53G>A
NM_016188.5:c.759+53G>A MANE Select NP_057272.1:n.759+53G>A
NR_134539.2:n.853+53G>A
Search 100 bp 5'
Search 100 bp 3'