Canonical Allele Identifier: CA2690397215
Gene: PSAT1 HGNC NCBI

Linked Data

gnomAD v4: 9-78305009-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.78305009G>A , CM000671.2:g.78305009G>A GRCh38
NC_000009.11:g.80919925G>A , CM000671.1:g.80919925G>A GRCh37
NC_000009.10:g.80109745G>A NCBI36
NG_012165.1:g.12867G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376588.4:c.397+69G>A MANE Select ENSP00000365773.3:n.397+69G>A
ENST00000347159.6:c.397+69G>A ENSP00000317606.2:n.397+69G>A
ENST00000376588.3:c.397+69G>A ENSP00000365773.3:n.397+69G>A
NM_021154.4:c.397+69G>A NP_066977.1:n.397+69G>A
NM_058179.3:c.397+69G>A NP_478059.1:n.397+69G>A
NM_058179.4:c.397+69G>A MANE Select NP_478059.1:n.397+69G>A
NM_021154.5:c.397+69G>A NP_066977.1:n.397+69G>A
Search 100 bp 5'
Search 100 bp 3'