Canonical Allele Identifier: CA38814411
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs556696242
gnomAD v3: 1-229431052-C-T
gnomAD v4: 1-229431052-C-T
MyVariant Identifiers: chr1:g.229566799C>T (hg19) chr1:g.229431052C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431052C>T , CM000663.2:g.229431052C>T GRCh38
NC_000001.10:g.229566799C>T , CM000663.1:g.229566799C>T GRCh37
NC_000001.9:g.227633422C>T NCBI36
NG_006672.1:g.8045G>A , LRG_429:g.8045G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684723.1:c.*447G>A ENSP00000508084.1:n.*447G>A
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