Canonical Allele Identifier: CA345146940
Gene: ACTA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432093A>T , CM000663.2:g.229432093A>T GRCh38
NC_000001.10:g.229567840A>T , CM000663.1:g.229567840A>T GRCh37
NC_000001.9:g.227634463A>T NCBI36
NG_006672.1:g.7004T>A , LRG_429:g.7004T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.709T>A ENSP00000355644.4:p.Ser237Thr
ENST00000684723.1:c.574T>A ENSP00000508084.1:p.Ser192Thr
ENST00000366683.3:c.480-231T>A ENSP00000355644.3:n.480-231T>A
ENST00000366684.7:c.709T>A MANE Select ENSP00000355645.3:p.Ser237Thr
NM_001100.3:c.709T>A , LRG_429t1:c.709T>A NP_001091.1:p.Ser237Thr
NM_001100.4:c.709T>A MANE Select NP_001091.1:p.Ser237Thr