Canonical Allele Identifier: CA373872397

Gene: PSAT1

Linked Data

• gnomAD v4: 9-78304866-C-T
• COSMIC: COSM4718316
• MyVariant Identifiers: chr9:g.80919782C>T (hg19) ; chr9:g.78304866C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.78304866C>T , CM000671.2:g.78304866C>T	GRCh38
NC_000009.11:g.80919782C>T , CM000671.1:g.80919782C>T	GRCh37
NC_000009.10:g.80109602C>T	NCBI36
NG_012165.1:g.12724C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376588.4:c.323C>T MANE Select	ENSP00000365773.3:p.Ser108Leu
ENST00000347159.6:c.323C>T	ENSP00000317606.2:p.Ser108Leu
ENST00000376588.3:c.323C>T	ENSP00000365773.3:p.Ser108Leu
NM_021154.4:c.323C>T	NP_066977.1:p.Ser108Leu
NM_058179.3:c.323C>T	NP_478059.1:p.Ser108Leu
NM_058179.4:c.323C>T MANE Select	NP_478059.1:p.Ser108Leu
NM_021154.5:c.323C>T	NP_066977.1:p.Ser108Leu