Canonical Allele Identifier: CA38814449
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs181954138
gnomAD v2: 1-229566899-T-A
gnomAD v3: 1-229431152-T-A
gnomAD v4: 1-229431152-T-A
MyVariant Identifiers: chr1:g.229566899T>A (hg19) chr1:g.229431152T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431152T>A , CM000663.2:g.229431152T>A GRCh38
NC_000001.10:g.229566899T>A , CM000663.1:g.229566899T>A GRCh37
NC_000001.9:g.227633522T>A NCBI36
NG_006672.1:g.7945A>T , LRG_429:g.7945A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684723.1:c.*347A>T ENSP00000508084.1:n.*347A>T
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