Canonical Allele Identifier: CA1013145003
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs1659923703
gnomAD v3: 1-229431180-G-A
gnomAD v4: 1-229431180-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431180G>A , CM000663.2:g.229431180G>A GRCh38
NC_000001.10:g.229566927G>A , CM000663.1:g.229566927G>A GRCh37
NC_000001.9:g.227633550G>A NCBI36
NG_006672.1:g.7917C>T , LRG_429:g.7917C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684723.1:c.*319C>T ENSP00000508084.1:n.*319C>T
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Search 100 bp 3'