Canonical Allele Identifier: CA373872507
Gene: PSAT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1994959
ClinVar RCV Id: RCV002791523
MyVariant Identifiers: chr9:g.80919817A>G (hg19) chr9:g.78304901A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.78304901A>G , CM000671.2:g.78304901A>G GRCh38
NC_000009.11:g.80919817A>G , CM000671.1:g.80919817A>G GRCh37
NC_000009.10:g.80109637A>G NCBI36
NG_012165.1:g.12759A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000376588.4:c.358A>G MANE Select ENSP00000365773.3:p.Thr120Ala
ENST00000347159.6:c.358A>G ENSP00000317606.2:p.Thr120Ala
ENST00000376588.3:c.358A>G ENSP00000365773.3:p.Thr120Ala
NM_021154.4:c.358A>G NP_066977.1:p.Thr120Ala
NM_058179.3:c.358A>G NP_478059.1:p.Thr120Ala
NM_058179.4:c.358A>G MANE Select NP_478059.1:p.Thr120Ala
NM_021154.5:c.358A>G NP_066977.1:p.Thr120Ala
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