Canonical Allele Identifier: CA2650926533
Gene: ACTA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431384G>C , CM000663.2:g.229431384G>C GRCh38
NC_000001.10:g.229567131G>C , CM000663.1:g.229567131G>C GRCh37
NC_000001.9:g.227633754G>C NCBI36
NG_006672.1:g.7713C>G , LRG_429:g.7713C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.*115C>G ENSP00000355644.4:n.*115C>G
ENST00000684723.1:c.*115C>G ENSP00000508084.1:n.*115C>G
ENST00000366683.3:c.*115C>G ENSP00000355644.3:n.*115C>G
ENST00000366684.7:c.*115C>G MANE Select ENSP00000355645.3:n.*115C>G
NM_001100.3:c.*115C>G , LRG_429t1:c.*115C>G NP_001091.1:n.*115C>G
NM_001100.4:c.*115C>G MANE Select NP_001091.1:n.*115C>G