Canonical Allele Identifier: CA2650926585
Gene: ACTA1 HGNC NCBI

Linked Data

gnomAD v4: 1-229431670-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431670A>G , CM000663.2:g.229431670A>G GRCh38
NC_000001.10:g.229567417A>G , CM000663.1:g.229567417A>G GRCh37
NC_000001.9:g.227634040A>G NCBI36
NG_006672.1:g.7427T>C , LRG_429:g.7427T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.990+51T>C ENSP00000355644.4:n.990+51T>C
ENST00000684723.1:c.856-28T>C ENSP00000508084.1:n.856-28T>C
ENST00000366683.3:c.622-28T>C ENSP00000355644.3:n.622-28T>C
ENST00000366684.7:c.991-28T>C MANE Select ENSP00000355645.3:n.991-28T>C
NM_001100.3:c.991-28T>C , LRG_429t1:c.991-28T>C NP_001091.1:n.991-28T>C
NM_001100.4:c.991-28T>C MANE Select NP_001091.1:n.991-28T>C
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