Canonical Allele Identifier: CA2574151178
Gene: ACTA1 HGNC NCBI

Linked Data

gnomAD v4: 1-229431440-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431440G>A , CM000663.2:g.229431440G>A GRCh38
NC_000001.10:g.229567187G>A , CM000663.1:g.229567187G>A GRCh37
NC_000001.9:g.227633810G>A NCBI36
NG_006672.1:g.7657C>T , LRG_429:g.7657C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.*59C>T ENSP00000355644.4:n.*59C>T
ENST00000684723.1:c.*59C>T ENSP00000508084.1:n.*59C>T
ENST00000366683.3:c.*59C>T ENSP00000355644.3:n.*59C>T
ENST00000366684.7:c.*59C>T MANE Select ENSP00000355645.3:n.*59C>T
NM_001100.3:c.*59C>T , LRG_429t1:c.*59C>T NP_001091.1:n.*59C>T
NM_001100.4:c.*59C>T MANE Select NP_001091.1:n.*59C>T
Search 100 bp 5'
Search 100 bp 3'