Canonical Allele Identifier: CA2650926448
Gene: ACTA1 HGNC NCBI

Linked Data

gnomAD v4: 1-229431262-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431262A>G , CM000663.2:g.229431262A>G GRCh38
NC_000001.10:g.229567009A>G , CM000663.1:g.229567009A>G GRCh37
NC_000001.9:g.227633632A>G NCBI36
NG_006672.1:g.7835T>C , LRG_429:g.7835T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.*237T>C ENSP00000355644.4:n.*237T>C
ENST00000684723.1:c.*237T>C ENSP00000508084.1:n.*237T>C
ENST00000366683.3:c.*237T>C ENSP00000355644.3:n.*237T>C
ENST00000366684.7:c.*237T>C MANE Select ENSP00000355645.3:n.*237T>C
NM_001100.3:c.*237T>C , LRG_429t1:c.*237T>C NP_001091.1:n.*237T>C
NM_001100.4:c.*237T>C MANE Select NP_001091.1:n.*237T>C
Search 100 bp 5'
Search 100 bp 3'