Canonical Allele Identifier: CA2650926315
Gene: ACTA1 HGNC NCBI

Linked Data

gnomAD v4: 1-229431117-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431117A>C , CM000663.2:g.229431117A>C GRCh38
NC_000001.10:g.229566864A>C , CM000663.1:g.229566864A>C GRCh37
NC_000001.9:g.227633487A>C NCBI36
NG_006672.1:g.7980T>G , LRG_429:g.7980T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684723.1:c.*382T>G ENSP00000508084.1:n.*382T>G
Search 100 bp 5'
Search 100 bp 3'