Canonical Allele Identifier: CA5095472

Gene: PSAT1

Linked Data

• ClinVar Variation Id: 912614
• ClinVar RCV Id: RCV001254426 ; RCV001165918 ; RCV001859073
• dbSNP Id: rs547331710
• ExAC: 9:80912130 G / T
• gnomAD v2: 9-80912130-G-T
• gnomAD v3: 9-78297214-G-T
• gnomAD v4: 9-78297214-G-T
• MyVariant Identifiers: chr9:g.80912130G>T (hg19) ; chr9:g.78297214G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.78297214G>T , CM000671.2:g.78297214G>T	GRCh38
NC_000009.11:g.80912130G>T , CM000671.1:g.80912130G>T	GRCh37
NC_000009.10:g.80101950G>T	NCBI36
NG_012165.1:g.5072G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376588.4:c.4G>T MANE Select	ENSP00000365773.3:p.Asp2Tyr
ENST00000347159.6:c.4G>T	ENSP00000317606.2:p.Asp2Tyr
ENST00000376588.3:c.4G>T	ENSP00000365773.3:p.Asp2Tyr
NM_021154.4:c.4G>T	NP_066977.1:p.Asp2Tyr
NM_058179.3:c.4G>T	NP_478059.1:p.Asp2Tyr
NM_058179.4:c.4G>T MANE Select	NP_478059.1:p.Asp2Tyr
NM_021154.5:c.4G>T	NP_066977.1:p.Asp2Tyr