Canonical Allele Identifier: CA373871572
Gene: PSAT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 913714
ClinVar RCV Id: RCV001167489
dbSNP Id: rs1398106119
gnomAD v2: 9-80915564-G-A
MyVariant Identifiers: chr9:g.80915564G>A (hg19) chr9:g.78300648G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.78300648G>A , CM000671.2:g.78300648G>A GRCh38
NC_000009.11:g.80915564G>A , CM000671.1:g.80915564G>A GRCh37
NC_000009.10:g.80105384G>A NCBI36
NG_012165.1:g.8506G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000376588.4:c.107G>A MANE Select ENSP00000365773.3:p.Gly36Asp
ENST00000347159.6:c.107G>A ENSP00000317606.2:p.Gly36Asp
ENST00000376588.3:c.107G>A ENSP00000365773.3:p.Gly36Asp
NM_021154.4:c.107G>A NP_066977.1:p.Gly36Asp
NM_058179.3:c.107G>A NP_478059.1:p.Gly36Asp
NM_058179.4:c.107G>A MANE Select NP_478059.1:p.Gly36Asp
NM_021154.5:c.107G>A NP_066977.1:p.Gly36Asp
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