Canonical Allele Identifier: CA2499214555
Gene: ACTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1051987
ClinVar RCV Id: RCV001360101 RCV001751704
dbSNP Id: rs199804338
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432190G>T , CM000663.2:g.229432190G>T GRCh38
NC_000001.10:g.229567937G>T , CM000663.1:g.229567937G>T GRCh37
NC_000001.9:g.227634560G>T NCBI36
NG_006672.1:g.6907C>A , LRG_429:g.6907C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.617-5C>A ENSP00000355644.4:n.617-5C>A
ENST00000684723.1:c.482-5C>A ENSP00000508084.1:n.482-5C>A
ENST00000366683.3:c.479+217C>A ENSP00000355644.3:n.479+217C>A
ENST00000366684.7:c.617-5C>A MANE Select ENSP00000355645.3:n.617-5C>A
NM_001100.3:c.617-5C>A , LRG_429t1:c.617-5C>A NP_001091.1:n.617-5C>A
NM_001100.4:c.617-5C>A MANE Select NP_001091.1:n.617-5C>A
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