Canonical Allele Identifier: CA2650926313
Gene: ACTA1 HGNC NCBI

Linked Data

gnomAD v4: 1-229431116-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431116A>C , CM000663.2:g.229431116A>C GRCh38
NC_000001.10:g.229566863A>C , CM000663.1:g.229566863A>C GRCh37
NC_000001.9:g.227633486A>C NCBI36
NG_006672.1:g.7981T>G , LRG_429:g.7981T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684723.1:c.*383T>G ENSP00000508084.1:n.*383T>G
Search 100 bp 5'
Search 100 bp 3'