Canonical Allele Identifier: CA16042312
Gene: ACTA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 373580
ClinVar RCV Id: RCV000413567
dbSNP Id: rs1057518493

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431629G>T , CM000663.2:g.229431629G>T GRCh38
NC_000001.10:g.229567376G>T , CM000663.1:g.229567376G>T GRCh37
NC_000001.9:g.227633999G>T NCBI36
NG_006672.1:g.7468C>A , LRG_429:g.7468C>A

Transcript Alleles

HGVS Amino-acid change
NM_001100.3:c.1004C>A , LRG_429t1:c.1004C>A NP_001091.1:p.Pro335Gln
ENST00000366683.3:c.635C>A ENSP00000355644.3:p.Pro212Gln
ENST00000366684.7:c.1004C>A ENSP00000355645.3:p.Pro335Gln