Canonical Allele Identifier: CA345148897
Gene: ACTA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432419T>G , CM000663.2:g.229432419T>G GRCh38
NC_000001.10:g.229568166T>G , CM000663.1:g.229568166T>G GRCh37
NC_000001.9:g.227634789T>G NCBI36
NG_006672.1:g.6678A>C , LRG_429:g.6678A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.467A>C ENSP00000355644.4:p.Asp156Ala
ENST00000684723.1:c.332A>C ENSP00000508084.1:p.Asp111Ala
ENST00000366683.3:c.467A>C ENSP00000355644.3:p.Asp156Ala
ENST00000366684.7:c.467A>C MANE Select ENSP00000355645.3:p.Asp156Ala
NM_001100.3:c.467A>C , LRG_429t1:c.467A>C NP_001091.1:p.Asp156Ala
NM_001100.4:c.467A>C MANE Select NP_001091.1:p.Asp156Ala