Canonical Allele Identifier: CA345146951
Gene: ACTA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432096A>C , CM000663.2:g.229432096A>C GRCh38
NC_000001.10:g.229567843A>C , CM000663.1:g.229567843A>C GRCh37
NC_000001.9:g.227634466A>C NCBI36
NG_006672.1:g.7001T>G , LRG_429:g.7001T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.706T>G ENSP00000355644.4:p.Ser236Ala
ENST00000684723.1:c.571T>G ENSP00000508084.1:p.Ser191Ala
ENST00000366683.3:c.480-234T>G ENSP00000355644.3:n.480-234T>G
ENST00000366684.7:c.706T>G MANE Select ENSP00000355645.3:p.Ser236Ala
NM_001100.3:c.706T>G , LRG_429t1:c.706T>G NP_001091.1:p.Ser236Ala
NM_001100.4:c.706T>G MANE Select NP_001091.1:p.Ser236Ala