Canonical Allele Identifier: CA373871615
Gene: PSAT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1492981
ClinVar RCV Id: RCV001984019
dbSNP Id: rs2118623721
gnomAD v4: 9-78300659-C-G
MyVariant Identifiers: chr9:g.80915575C>G (hg19) chr9:g.78300659C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.78300659C>G , CM000671.2:g.78300659C>G GRCh38
NC_000009.11:g.80915575C>G , CM000671.1:g.80915575C>G GRCh37
NC_000009.10:g.80105395C>G NCBI36
NG_012165.1:g.8517C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000376588.4:c.118C>G MANE Select ENSP00000365773.3:p.Leu40Val
ENST00000347159.6:c.118C>G ENSP00000317606.2:p.Leu40Val
ENST00000376588.3:c.118C>G ENSP00000365773.3:p.Leu40Val
NM_021154.4:c.118C>G NP_066977.1:p.Leu40Val
NM_058179.3:c.118C>G NP_478059.1:p.Leu40Val
NM_058179.4:c.118C>G MANE Select NP_478059.1:p.Leu40Val
NM_021154.5:c.118C>G NP_066977.1:p.Leu40Val
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