Canonical Allele Identifier: CA2684113526
Gene: ACTL6B HGNC NCBI

Linked Data

gnomAD v4: 7-100647406-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100647406G>A , CM000669.2:g.100647406G>A GRCh38
NC_000007.13:g.100245029G>A , CM000669.1:g.100245029G>A GRCh37
NC_000007.12:g.100082965G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.759+38C>T MANE Select ENSP00000160382.5:n.759+38C>T
ENST00000160382.9:c.759+38C>T ENSP00000160382.5:n.759+38C>T
ENST00000487125.1:n.295+38C>T
NM_016188.4:c.759+38C>T NP_057272.1:n.759+38C>T
XR_927476.1:n.866+38C>T
NR_134539.1:n.866+38C>T
NM_016188.5:c.759+38C>T MANE Select NP_057272.1:n.759+38C>T
NR_134539.2:n.853+38C>T
Search 100 bp 5'
Search 100 bp 3'