Canonical Allele Identifier: CA2650926410
Gene: ACTA1 HGNC NCBI

Linked Data

gnomAD v4: 1-229431224-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431224C>A , CM000663.2:g.229431224C>A GRCh38
NC_000001.10:g.229566971C>A , CM000663.1:g.229566971C>A GRCh37
NC_000001.9:g.227633594C>A NCBI36
NG_006672.1:g.7873G>T , LRG_429:g.7873G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684723.1:c.*275G>T ENSP00000508084.1:n.*275G>T
Search 100 bp 5'
Search 100 bp 3'