Canonical Allele Identifier: CA16042652
Gene: PSAT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 372478
dbSNP Id: rs1057517807

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.78304839_78304840delinsTG , CM000671.2:g.78304839_78304840delinsTG GRCh38
NC_000009.11:g.80919755_80919756delinsTG , CM000671.1:g.80919755_80919756delinsTG GRCh37
NC_000009.10:g.80109575_80109576delinsTG NCBI36
NG_012165.1:g.12697_12698delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000376588.4:c.296_297delinsTG MANE Select ENSP00000365773.3:p.Ala99Val
ENST00000347159.6:c.296_297delinsTG ENSP00000317606.2:p.Ala99Val
ENST00000376588.3:c.296_297delinsTG ENSP00000365773.3:p.Ala99Val
NM_021154.4:c.296_297delinsTG NP_066977.1:p.Ala99Val
NM_058179.3:c.296_297delinsTG NP_478059.1:p.Ala99Val
NM_058179.4:c.296_297delinsTG MANE Select NP_478059.1:p.Ala99Val
NM_021154.5:c.296_297delinsTG NP_066977.1:p.Ala99Val