Canonical Allele Identifier: CA5095505
Gene: PSAT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 977018
ClinVar RCV Id: RCV001254537
dbSNP Id: rs141408971
ExAC: 9:80915566 A / G
gnomAD v2: 9-80915566-A-G
gnomAD v3: 9-78300650-A-G
gnomAD v4: 9-78300650-A-G
MyVariant Identifiers: chr9:g.80915566A>G (hg19) chr9:g.78300650A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.78300650A>G , CM000671.2:g.78300650A>G GRCh38
NC_000009.11:g.80915566A>G , CM000671.1:g.80915566A>G GRCh37
NC_000009.10:g.80105386A>G NCBI36
NG_012165.1:g.8508A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000376588.4:c.109A>G MANE Select ENSP00000365773.3:p.Ile37Val
ENST00000347159.6:c.109A>G ENSP00000317606.2:p.Ile37Val
ENST00000376588.3:c.109A>G ENSP00000365773.3:p.Ile37Val
NM_021154.4:c.109A>G NP_066977.1:p.Ile37Val
NM_058179.3:c.109A>G NP_478059.1:p.Ile37Val
NM_058179.4:c.109A>G MANE Select NP_478059.1:p.Ile37Val
NM_021154.5:c.109A>G NP_066977.1:p.Ile37Val
Search 100 bp 5'
Search 100 bp 3'