Canonical Allele Identifier: CA373872561
Gene: PSAT1 HGNC NCBI

Linked Data

dbSNP Id: rs1242137800
gnomAD v3: 9-78304928-G-A
gnomAD v4: 9-78304928-G-A
MyVariant Identifiers: chr9:g.80919844G>A (hg19) chr9:g.78304928G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.78304928G>A , CM000671.2:g.78304928G>A GRCh38
NC_000009.11:g.80919844G>A , CM000671.1:g.80919844G>A GRCh37
NC_000009.10:g.80109664G>A NCBI36
NG_012165.1:g.12786G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376588.4:c.385G>A MANE Select ENSP00000365773.3:p.Gly129Arg
ENST00000347159.6:c.385G>A ENSP00000317606.2:p.Gly129Arg
ENST00000376588.3:c.385G>A ENSP00000365773.3:p.Gly129Arg
NM_021154.4:c.385G>A NP_066977.1:p.Gly129Arg
NM_058179.3:c.385G>A NP_478059.1:p.Gly129Arg
NM_058179.4:c.385G>A MANE Select NP_478059.1:p.Gly129Arg
NM_021154.5:c.385G>A NP_066977.1:p.Gly129Arg
Search 100 bp 5'
Search 100 bp 3'