Canonical Allele Identifier: CA2650926308
Gene: ACTA1 HGNC NCBI

Linked Data

gnomAD v4: 1-229431110-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431110C>G , CM000663.2:g.229431110C>G GRCh38
NC_000001.10:g.229566857C>G , CM000663.1:g.229566857C>G GRCh37
NC_000001.9:g.227633480C>G NCBI36
NG_006672.1:g.7987G>C , LRG_429:g.7987G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684723.1:c.*389G>C ENSP00000508084.1:n.*389G>C
Search 100 bp 5'
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