Canonical Allele Identifier: CA732579051
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs1341117836
gnomAD v3: 1-229431258-A-T
gnomAD v4: 1-229431258-A-T
MyVariant Identifiers: chr1:g.229567005A>T (hg19) chr1:g.229431258A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431258A>T , CM000663.2:g.229431258A>T GRCh38
NC_000001.10:g.229567005A>T , CM000663.1:g.229567005A>T GRCh37
NC_000001.9:g.227633628A>T NCBI36
NG_006672.1:g.7839T>A , LRG_429:g.7839T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.*241T>A ENSP00000355644.4:n.*241T>A
ENST00000684723.1:c.*241T>A ENSP00000508084.1:n.*241T>A
ENST00000366683.3:c.*241T>A ENSP00000355644.3:n.*241T>A
ENST00000366684.7:c.*241T>A MANE Select ENSP00000355645.3:n.*241T>A
NM_001100.3:c.*241T>A , LRG_429t1:c.*241T>A NP_001091.1:n.*241T>A
NM_001100.4:c.*241T>A MANE Select NP_001091.1:n.*241T>A
Search 100 bp 5'
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