Canonical Allele Identifier: CA345147551
Gene: ACTA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432186C>G , CM000663.2:g.229432186C>G GRCh38
NC_000001.10:g.229567933C>G , CM000663.1:g.229567933C>G GRCh37
NC_000001.9:g.227634556C>G NCBI36
NG_006672.1:g.6911G>C , LRG_429:g.6911G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.617-1G>C ENSP00000355644.4:n.617-1G>C
ENST00000684723.1:c.482-1G>C ENSP00000508084.1:n.482-1G>C
ENST00000366683.3:c.479+221G>C ENSP00000355644.3:n.479+221G>C
ENST00000366684.7:c.617-1G>C MANE Select ENSP00000355645.3:n.617-1G>C
NM_001100.3:c.617-1G>C , LRG_429t1:c.617-1G>C NP_001091.1:n.617-1G>C
NM_001100.4:c.617-1G>C MANE Select NP_001091.1:n.617-1G>C