Canonical Allele Identifier: CA345150874
Gene: ACTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 427190
dbSNP Id: rs1085308014

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432838C>T , CM000663.2:g.229432838C>T GRCh38
NC_000001.10:g.229568585C>T , CM000663.1:g.229568585C>T GRCh37
NC_000001.9:g.227635208C>T NCBI36
NG_006672.1:g.6259G>A , LRG_429:g.6259G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.172G>A ENSP00000355644.4:p.Asp58Asn
ENST00000684723.1:c.37G>A ENSP00000508084.1:p.Asp13Asn
ENST00000366683.3:c.172G>A ENSP00000355644.3:p.Asp58Asn
ENST00000366684.7:c.172G>A MANE Select ENSP00000355645.3:p.Asp58Asn
NM_001100.3:c.172G>A , LRG_429t1:c.172G>A NP_001091.1:p.Asp58Asn
NM_001100.4:c.172G>A MANE Select NP_001091.1:p.Asp58Asn