Canonical Allele Identifier: CA1226125264
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs1231430553
gnomAD v4: 1-229431383-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431383T>C , CM000663.2:g.229431383T>C GRCh38
NC_000001.10:g.229567130T>C , CM000663.1:g.229567130T>C GRCh37
NC_000001.9:g.227633753T>C NCBI36
NG_006672.1:g.7714A>G , LRG_429:g.7714A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.*116A>G ENSP00000355644.4:n.*116A>G
ENST00000684723.1:c.*116A>G ENSP00000508084.1:n.*116A>G
ENST00000366683.3:c.*116A>G ENSP00000355644.3:n.*116A>G
ENST00000366684.7:c.*116A>G MANE Select ENSP00000355645.3:n.*116A>G
NM_001100.3:c.*116A>G , LRG_429t1:c.*116A>G NP_001091.1:n.*116A>G
NM_001100.4:c.*116A>G MANE Select NP_001091.1:n.*116A>G
Search 100 bp 5'
Search 100 bp 3'