×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
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
MyVariant Identifiers:
chr9:g.80915567T>C (hg19)
chr9:g.78300651T>C (hg38)
JSON-LD
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
Search 100 bp 5'
Search 100 bp 3'