Canonical Allele Identifier: CA1013145444
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs1659958672
gnomAD v3: 1-229432200-A-C
gnomAD v4: 1-229432200-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432200A>C , CM000663.2:g.229432200A>C GRCh38
NC_000001.10:g.229567947A>C , CM000663.1:g.229567947A>C GRCh37
NC_000001.9:g.227634570A>C NCBI36
NG_006672.1:g.6897T>G , LRG_429:g.6897T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.617-15T>G ENSP00000355644.4:n.617-15T>G
ENST00000684723.1:c.482-15T>G ENSP00000508084.1:n.482-15T>G
ENST00000366683.3:c.479+207T>G ENSP00000355644.3:n.479+207T>G
ENST00000366684.7:c.617-15T>G MANE Select ENSP00000355645.3:n.617-15T>G
NM_001100.3:c.617-15T>G , LRG_429t1:c.617-15T>G NP_001091.1:n.617-15T>G
NM_001100.4:c.617-15T>G MANE Select NP_001091.1:n.617-15T>G
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