Canonical Allele Identifier: CA38815838
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs111812550

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432269C>G , CM000663.2:g.229432269C>G GRCh38
NC_000001.10:g.229568016C>G , CM000663.1:g.229568016C>G GRCh37
NC_000001.9:g.227634639C>G NCBI36
NG_006672.1:g.6828G>C , LRG_429:g.6828G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.616+1G>C ENSP00000355644.4:n.616+1G>C
ENST00000684723.1:c.481+1G>C ENSP00000508084.1:n.481+1G>C
ENST00000366683.3:c.479+138G>C ENSP00000355644.3:n.479+138G>C
ENST00000366684.7:c.616+1G>C MANE Select ENSP00000355645.3:n.616+1G>C
NM_001100.3:c.616+1G>C , LRG_429t1:c.616+1G>C NP_001091.1:n.616+1G>C
NM_001100.4:c.616+1G>C MANE Select NP_001091.1:n.616+1G>C