Canonical Allele Identifier: CA2650926310
Gene: ACTA1 HGNC NCBI

Linked Data

gnomAD v4: 1-229431112-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431112T>G , CM000663.2:g.229431112T>G GRCh38
NC_000001.10:g.229566859T>G , CM000663.1:g.229566859T>G GRCh37
NC_000001.9:g.227633482T>G NCBI36
NG_006672.1:g.7985A>C , LRG_429:g.7985A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684723.1:c.*387A>C ENSP00000508084.1:n.*387A>C
Search 100 bp 5'
Search 100 bp 3'