Canonical Allele Identifier: CA373872543
Gene: PSAT1 HGNC NCBI

Linked Data

dbSNP Id: rs1013336793
gnomAD v3: 9-78304919-C-A
gnomAD v4: 9-78304919-C-A
MyVariant Identifiers: chr9:g.80919835C>A (hg19) chr9:g.78304919C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.78304919C>A , CM000671.2:g.78304919C>A GRCh38
NC_000009.11:g.80919835C>A , CM000671.1:g.80919835C>A GRCh37
NC_000009.10:g.80109655C>A NCBI36
NG_012165.1:g.12777C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376588.4:c.376C>A MANE Select ENSP00000365773.3:p.Pro126Thr
ENST00000347159.6:c.376C>A ENSP00000317606.2:p.Pro126Thr
ENST00000376588.3:c.376C>A ENSP00000365773.3:p.Pro126Thr
NM_021154.4:c.376C>A NP_066977.1:p.Pro126Thr
NM_058179.3:c.376C>A NP_478059.1:p.Pro126Thr
NM_058179.4:c.376C>A MANE Select NP_478059.1:p.Pro126Thr
NM_021154.5:c.376C>A NP_066977.1:p.Pro126Thr
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