Canonical Allele Identifier: CA2650926362
Gene: ACTA1 HGNC NCBI

Linked Data

gnomAD v4: 1-229431183-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431183T>G , CM000663.2:g.229431183T>G GRCh38
NC_000001.10:g.229566930T>G , CM000663.1:g.229566930T>G GRCh37
NC_000001.9:g.227633553T>G NCBI36
NG_006672.1:g.7914A>C , LRG_429:g.7914A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684723.1:c.*316A>C ENSP00000508084.1:n.*316A>C
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