Canonical Allele Identifier: CA2650926401
Gene: ACTA1 HGNC NCBI

Linked Data

gnomAD v4: 1-229431218-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431218C>A , CM000663.2:g.229431218C>A GRCh38
NC_000001.10:g.229566965C>A , CM000663.1:g.229566965C>A GRCh37
NC_000001.9:g.227633588C>A NCBI36
NG_006672.1:g.7879G>T , LRG_429:g.7879G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684723.1:c.*281G>T ENSP00000508084.1:n.*281G>T
Search 100 bp 5'
Search 100 bp 3'