Canonical Allele Identifier: CA1226125142
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs1659922695
gnomAD v4: 1-229431120-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431120T>C , CM000663.2:g.229431120T>C GRCh38
NC_000001.10:g.229566867T>C , CM000663.1:g.229566867T>C GRCh37
NC_000001.9:g.227633490T>C NCBI36
NG_006672.1:g.7977A>G , LRG_429:g.7977A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684723.1:c.*379A>G ENSP00000508084.1:n.*379A>G
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