Canonical Allele Identifier: CA373871578
Gene: PSAT1 HGNC NCBI

Linked Data

dbSNP Id: rs1828094217
gnomAD v3: 9-78300651-T-C
gnomAD v4: 9-78300651-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.78300651T>C , CM000671.2:g.78300651T>C GRCh38
NC_000009.11:g.80915567T>C , CM000671.1:g.80915567T>C GRCh37
NC_000009.10:g.80105387T>C NCBI36
NG_012165.1:g.8509T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000376588.4:c.110T>C MANE Select ENSP00000365773.3:p.Ile37Thr
ENST00000347159.6:c.110T>C ENSP00000317606.2:p.Ile37Thr
ENST00000376588.3:c.110T>C ENSP00000365773.3:p.Ile37Thr
NM_021154.4:c.110T>C NP_066977.1:p.Ile37Thr
NM_058179.3:c.110T>C NP_478059.1:p.Ile37Thr
NM_058179.4:c.110T>C MANE Select NP_478059.1:p.Ile37Thr
NM_021154.5:c.110T>C NP_066977.1:p.Ile37Thr