Canonical Allele Identifier: CA2650926563
Gene: ACTA1 HGNC NCBI

Linked Data

gnomAD v4: 1-229431449-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431449T>G , CM000663.2:g.229431449T>G GRCh38
NC_000001.10:g.229567196T>G , CM000663.1:g.229567196T>G GRCh37
NC_000001.9:g.227633819T>G NCBI36
NG_006672.1:g.7648A>C , LRG_429:g.7648A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.*50A>C ENSP00000355644.4:n.*50A>C
ENST00000684723.1:c.*50A>C ENSP00000508084.1:n.*50A>C
ENST00000366683.3:c.*50A>C ENSP00000355644.3:n.*50A>C
ENST00000366684.7:c.*50A>C MANE Select ENSP00000355645.3:n.*50A>C
NM_001100.3:c.*50A>C , LRG_429t1:c.*50A>C NP_001091.1:n.*50A>C
NM_001100.4:c.*50A>C MANE Select NP_001091.1:n.*50A>C
Search 100 bp 5'
Search 100 bp 3'