Canonical Allele Identifier: CA423755199
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs777182854
gnomAD v2: 1-229568427-G-T
gnomAD v4: 1-229432680-G-T
MyVariant Identifiers: chr1:g.229568427G>T (hg19) chr1:g.229432680G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432680G>T , CM000663.2:g.229432680G>T GRCh38
NC_000001.10:g.229568427G>T , CM000663.1:g.229568427G>T GRCh37
NC_000001.9:g.227635050G>T NCBI36
NG_006672.1:g.6417C>A , LRG_429:g.6417C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.330C>A ENSP00000355644.4:p.Ala110=
ENST00000684723.1:c.195C>A ENSP00000508084.1:p.Ala65=
ENST00000366683.3:c.330C>A ENSP00000355644.3:p.Ala110=
ENST00000366684.7:c.330C>A MANE Select ENSP00000355645.3:p.Ala110=
NM_001100.3:c.330C>A , LRG_429t1:c.330C>A NP_001091.1:p.Ala110=
NM_001100.4:c.330C>A MANE Select NP_001091.1:p.Ala110=
Search 100 bp 5'
Search 100 bp 3'