Canonical Allele Identifier: CA2684113562
Gene: ACTL6B HGNC NCBI

Linked Data

dbSNP Id: rs1584468317
gnomAD v4: 7-100647425-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100647425G>T , CM000669.2:g.100647425G>T GRCh38
NC_000007.13:g.100245048G>T , CM000669.1:g.100245048G>T GRCh37
NC_000007.12:g.100082984G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.759+19C>A MANE Select ENSP00000160382.5:n.759+19C>A
ENST00000160382.9:c.759+19C>A ENSP00000160382.5:n.759+19C>A
ENST00000487125.1:n.295+19C>A
NM_016188.4:c.759+19C>A NP_057272.1:n.759+19C>A
XR_927476.1:n.866+19C>A
NR_134539.1:n.866+19C>A
NM_016188.5:c.759+19C>A MANE Select NP_057272.1:n.759+19C>A
NR_134539.2:n.853+19C>A
Search 100 bp 5'
Search 100 bp 3'