Canonical Allele Identifier: CA345144217
Gene: ACTA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431528G>C , CM000663.2:g.229431528G>C GRCh38
NC_000001.10:g.229567275G>C , CM000663.1:g.229567275G>C GRCh37
NC_000001.9:g.227633898G>C NCBI36
NG_006672.1:g.7569C>G , LRG_429:g.7569C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.1027C>G ENSP00000355644.4:p.Pro343Ala
ENST00000684723.1:c.970C>G ENSP00000508084.1:p.Pro324Ala
ENST00000366683.3:c.736C>G ENSP00000355644.3:p.Pro246Ala
ENST00000366684.7:c.1105C>G MANE Select ENSP00000355645.3:p.Pro369Ala
NM_001100.3:c.1105C>G , LRG_429t1:c.1105C>G NP_001091.1:p.Pro369Ala
NM_001100.4:c.1105C>G MANE Select NP_001091.1:p.Pro369Ala