Canonical Allele Identifier: CA5095799
Gene: PSAT1 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.78328999G>A
GRCh37 chr9:g.80943915G>A
gnomAD v2:
9:80943915 G / A
gnomAD v4:
chr9-78328999-G-A
Joint Max Group AF 0.00000124 (NFE)
Exomes Max Group AF 0.00000132 (NFE)
ClinVar RCV:
RCV003748862
ClinVar Variation:
2897815
dbSNP:
769706393
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.78328999G>A , CM000671.2:g.78328999G>A GRCh38
NC_000009.11:g.80943915G>A , CM000671.1:g.80943915G>A GRCh37
NC_000009.10:g.80133735G>A NCBI36
NG_012165.1:g.36857G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376588.4:c.1026G>A MANE Select ENSP00000365773.3:p.Arg342=
ENST00000347159.6:c.888G>A ENSP00000317606.2:p.Arg296=
ENST00000376588.3:c.1026G>A ENSP00000365773.3:p.Arg342=
NM_021154.4:c.888G>A NP_066977.1:p.Arg296=
NM_058179.3:c.1026G>A NP_478059.1:p.Arg342=
NM_058179.4:c.1026G>A MANE Select NP_478059.1:p.Arg342=
NM_021154.5:c.888G>A NP_066977.1:p.Arg296=
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