Canonical Allele Identifier: CA345148310
Gene: ACTA1 HGNC NCBI

Linked Data

gnomAD v4: 1-229432338-G-T
MyVariant Identifiers: chr1:g.229568085G>T (hg19) chr1:g.229432338G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432338G>T , CM000663.2:g.229432338G>T GRCh38
NC_000001.10:g.229568085G>T , CM000663.1:g.229568085G>T GRCh37
NC_000001.9:g.227634708G>T NCBI36
NG_006672.1:g.6759C>A , LRG_429:g.6759C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.548C>A ENSP00000355644.4:p.Ala183Glu
ENST00000684723.1:c.413C>A ENSP00000508084.1:p.Ala138Glu
ENST00000366683.3:c.479+69C>A ENSP00000355644.3:n.479+69C>A
ENST00000366684.7:c.548C>A MANE Select ENSP00000355645.3:p.Ala183Glu
NM_001100.3:c.548C>A , LRG_429t1:c.548C>A NP_001091.1:p.Ala183Glu
NM_001100.4:c.548C>A MANE Select NP_001091.1:p.Ala183Glu
Search 100 bp 5'
Search 100 bp 3'