Canonical Allele Identifier: CA1013144988
Gene: ACTA1 HGNC NCBI

Linked Data

gnomAD v3: 1-229431115-G-A
gnomAD v4: 1-229431115-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431115G>A , CM000663.2:g.229431115G>A GRCh38
NC_000001.10:g.229566862G>A , CM000663.1:g.229566862G>A GRCh37
NC_000001.9:g.227633485G>A NCBI36
NG_006672.1:g.7982C>T , LRG_429:g.7982C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684723.1:c.*384C>T ENSP00000508084.1:n.*384C>T
Search 100 bp 5'
Search 100 bp 3'