Canonical Allele Identifier: CA38815231
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs937931817
gnomAD v2: 1-229567648-A-T
gnomAD v3: 1-229431901-A-T
gnomAD v4: 1-229431901-A-T
MyVariant Identifiers: chr1:g.229567648A>T (hg19) chr1:g.229431901A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431901A>T , CM000663.2:g.229431901A>T GRCh38
NC_000001.10:g.229567648A>T , CM000663.1:g.229567648A>T GRCh37
NC_000001.9:g.227634271A>T NCBI36
NG_006672.1:g.7196T>A , LRG_429:g.7196T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.810T>A ENSP00000355644.4:p.Gly270=
ENST00000684723.1:c.675T>A ENSP00000508084.1:p.Gly225=
ENST00000366683.3:c.480-39T>A ENSP00000355644.3:n.480-39T>A
ENST00000366684.7:c.810T>A MANE Select ENSP00000355645.3:p.Gly270=
NM_001100.3:c.810T>A , LRG_429t1:c.810T>A NP_001091.1:p.Gly270=
NM_001100.4:c.810T>A MANE Select NP_001091.1:p.Gly270=
Search 100 bp 5'
Search 100 bp 3'