Canonical Allele Identifier: CA529656391
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs1237198053
gnomAD v2: 1-229566849-C-T
gnomAD v3: 1-229431102-C-T
gnomAD v4: 1-229431102-C-T
MyVariant Identifiers: chr1:g.229566849C>T (hg19) chr1:g.229431102C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431102C>T , CM000663.2:g.229431102C>T GRCh38
NC_000001.10:g.229566849C>T , CM000663.1:g.229566849C>T GRCh37
NC_000001.9:g.227633472C>T NCBI36
NG_006672.1:g.7995G>A , LRG_429:g.7995G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684723.1:c.*397G>A ENSP00000508084.1:n.*397G>A
Search 100 bp 5'
Search 100 bp 3'