Canonical Allele Identifier: CA867185479
Gene: PSAT1 HGNC NCBI

Linked Data

dbSNP Id: rs1412799081
gnomAD v4: 9-78305002-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.78305002G>A , CM000671.2:g.78305002G>A GRCh38
NC_000009.11:g.80919918G>A , CM000671.1:g.80919918G>A GRCh37
NC_000009.10:g.80109738G>A NCBI36
NG_012165.1:g.12860G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376588.4:c.397+62G>A MANE Select ENSP00000365773.3:n.397+62G>A
ENST00000347159.6:c.397+62G>A ENSP00000317606.2:n.397+62G>A
ENST00000376588.3:c.397+62G>A ENSP00000365773.3:n.397+62G>A
NM_021154.4:c.397+62G>A NP_066977.1:n.397+62G>A
NM_058179.3:c.397+62G>A NP_478059.1:n.397+62G>A
NM_058179.4:c.397+62G>A MANE Select NP_478059.1:n.397+62G>A
NM_021154.5:c.397+62G>A NP_066977.1:n.397+62G>A