Canonical Allele Identifier: CA373872410
Gene: PSAT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1995834
ClinVar RCV Id: RCV002801596

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.78304871A>G , CM000671.2:g.78304871A>G GRCh38
NC_000009.11:g.80919787A>G , CM000671.1:g.80919787A>G GRCh37
NC_000009.10:g.80109607A>G NCBI36
NG_012165.1:g.12729A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000376588.4:c.328A>G MANE Select ENSP00000365773.3:p.Lys110Glu
ENST00000347159.6:c.328A>G ENSP00000317606.2:p.Lys110Glu
ENST00000376588.3:c.328A>G ENSP00000365773.3:p.Lys110Glu
NM_021154.4:c.328A>G NP_066977.1:p.Lys110Glu
NM_058179.3:c.328A>G NP_478059.1:p.Lys110Glu
NM_058179.4:c.328A>G MANE Select NP_478059.1:p.Lys110Glu
NM_021154.5:c.328A>G NP_066977.1:p.Lys110Glu