Canonical Allele Identifier: CA2574151191
Gene: ACTA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431706C>T , CM000663.2:g.229431706C>T GRCh38
NC_000001.10:g.229567453C>T , CM000663.1:g.229567453C>T GRCh37
NC_000001.9:g.227634076C>T NCBI36
NG_006672.1:g.7391G>A , LRG_429:g.7391G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.990+15G>A ENSP00000355644.4:n.990+15G>A
ENST00000684723.1:c.855+15G>A ENSP00000508084.1:n.855+15G>A
ENST00000366683.3:c.621+15G>A ENSP00000355644.3:n.621+15G>A
ENST00000366684.7:c.990+15G>A MANE Select ENSP00000355645.3:n.990+15G>A
NM_001100.3:c.990+15G>A , LRG_429t1:c.990+15G>A NP_001091.1:n.990+15G>A
NM_001100.4:c.990+15G>A MANE Select NP_001091.1:n.990+15G>A