Canonical Allele Identifier: CA5095575
Gene: PSAT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 367454
ClinVar RCV Id: RCV000402103 RCV001522557
dbSNP Id: rs3739474
ExAC: 9:80919756 T / G
gnomAD v2: 9-80919756-T-G
gnomAD v3: 9-78304840-T-G
gnomAD v4: 9-78304840-T-G
COSMIC: COSM4164046
MyVariant Identifiers: chr9:g.80919756T>G (hg19) chr9:g.78304840T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.78304840T>G , CM000671.2:g.78304840T>G GRCh38
NC_000009.11:g.80919756T>G , CM000671.1:g.80919756T>G GRCh37
NC_000009.10:g.80109576T>G NCBI36
NG_012165.1:g.12698T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000376588.4:c.297T>G MANE Select ENSP00000365773.3:p.Ala99=
ENST00000347159.6:c.297T>G ENSP00000317606.2:p.Ala99=
ENST00000376588.3:c.297T>G ENSP00000365773.3:p.Ala99=
NM_021154.4:c.297T>G NP_066977.1:p.Ala99=
NM_058179.3:c.297T>G NP_478059.1:p.Ala99=
NM_058179.4:c.297T>G MANE Select NP_478059.1:p.Ala99=
NM_021154.5:c.297T>G NP_066977.1:p.Ala99=
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