Canonical Allele Identifier: CA2650926651
Gene: ACTA1 HGNC NCBI

Linked Data

gnomAD v4: 1-229432203-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432203A>G , CM000663.2:g.229432203A>G GRCh38
NC_000001.10:g.229567950A>G , CM000663.1:g.229567950A>G GRCh37
NC_000001.9:g.227634573A>G NCBI36
NG_006672.1:g.6894T>C , LRG_429:g.6894T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.617-18T>C ENSP00000355644.4:n.617-18T>C
ENST00000684723.1:c.482-18T>C ENSP00000508084.1:n.482-18T>C
ENST00000366683.3:c.479+204T>C ENSP00000355644.3:n.479+204T>C
ENST00000366684.7:c.617-18T>C MANE Select ENSP00000355645.3:n.617-18T>C
NM_001100.3:c.617-18T>C , LRG_429t1:c.617-18T>C NP_001091.1:n.617-18T>C
NM_001100.4:c.617-18T>C MANE Select NP_001091.1:n.617-18T>C
Search 100 bp 5'
Search 100 bp 3'