Canonical Allele Identifier: CA5095588
Gene: PSAT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 976987
dbSNP Id: rs41277897
gnomAD v2: 9-80919807-G-C
gnomAD v4: 9-78304891-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.78304891G>C , CM000671.2:g.78304891G>C GRCh38
NC_000009.11:g.80919807G>C , CM000671.1:g.80919807G>C GRCh37
NC_000009.10:g.80109627G>C NCBI36
NG_012165.1:g.12749G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000376588.4:c.348G>C MANE Select ENSP00000365773.3:p.Lys116Asn
ENST00000347159.6:c.348G>C ENSP00000317606.2:p.Lys116Asn
ENST00000376588.3:c.348G>C ENSP00000365773.3:p.Lys116Asn
NM_021154.4:c.348G>C NP_066977.1:p.Lys116Asn
NM_058179.3:c.348G>C NP_478059.1:p.Lys116Asn
NM_058179.4:c.348G>C MANE Select NP_478059.1:p.Lys116Asn
NM_021154.5:c.348G>C NP_066977.1:p.Lys116Asn