Canonical Allele Identifier: CA373872552

Gene: PSAT1

Linked Data

• gnomAD v4: 9-78304923-A-G
• MyVariant Identifiers: chr9:g.80919839A>G (hg19) ; chr9:g.78304923A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.78304923A>G , CM000671.2:g.78304923A>G	GRCh38
NC_000009.11:g.80919839A>G , CM000671.1:g.80919839A>G	GRCh37
NC_000009.10:g.80109659A>G	NCBI36
NG_012165.1:g.12781A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376588.4:c.380A>G MANE Select	ENSP00000365773.3:p.Lys127Arg
ENST00000347159.6:c.380A>G	ENSP00000317606.2:p.Lys127Arg
ENST00000376588.3:c.380A>G	ENSP00000365773.3:p.Lys127Arg
NM_021154.4:c.380A>G	NP_066977.1:p.Lys127Arg
NM_058179.3:c.380A>G	NP_478059.1:p.Lys127Arg
NM_058179.4:c.380A>G MANE Select	NP_478059.1:p.Lys127Arg
NM_021154.5:c.380A>G	NP_066977.1:p.Lys127Arg