Canonical Allele Identifier: CA345150486
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs1659978489
gnomAD v3: 1-229432780-A-G
gnomAD v4: 1-229432780-A-G
MyVariant Identifiers: chr1:g.229568527A>G (hg19) chr1:g.229432780A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432780A>G , CM000663.2:g.229432780A>G GRCh38
NC_000001.10:g.229568527A>G , CM000663.1:g.229568527A>G GRCh37
NC_000001.9:g.227635150A>G NCBI36
NG_006672.1:g.6317T>C , LRG_429:g.6317T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.230T>C ENSP00000355644.4:p.Ile77Thr
ENST00000684723.1:c.95T>C ENSP00000508084.1:p.Ile32Thr
ENST00000366683.3:c.230T>C ENSP00000355644.3:p.Ile77Thr
ENST00000366684.7:c.230T>C MANE Select ENSP00000355645.3:p.Ile77Thr
NM_001100.3:c.230T>C , LRG_429t1:c.230T>C NP_001091.1:p.Ile77Thr
NM_001100.4:c.230T>C MANE Select NP_001091.1:p.Ile77Thr
Search 100 bp 5'
Search 100 bp 3'