Canonical Allele Identifier: CA1226125343
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs1421906651
gnomAD v4: 1-229431478-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431478C>A , CM000663.2:g.229431478C>A GRCh38
NC_000001.10:g.229567225C>A , CM000663.1:g.229567225C>A GRCh37
NC_000001.9:g.227633848C>A NCBI36
NG_006672.1:g.7619G>T , LRG_429:g.7619G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.*21G>T ENSP00000355644.4:n.*21G>T
ENST00000684723.1:c.*21G>T ENSP00000508084.1:n.*21G>T
ENST00000366683.3:c.*21G>T ENSP00000355644.3:n.*21G>T
ENST00000366684.7:c.*21G>T MANE Select ENSP00000355645.3:n.*21G>T
NM_001100.3:c.*21G>T , LRG_429t1:c.*21G>T NP_001091.1:n.*21G>T
NM_001100.4:c.*21G>T MANE Select NP_001091.1:n.*21G>T
Search 100 bp 5'
Search 100 bp 3'