Human (GRCh37.p13)
Description

GTP cyclohydrolase 1 [Source:HGNC Symbol;Acc:4193]

Gene Synonyms

DYT14, DYT5, DYT5a, GCH, GTP-CH-1, GTPCH1, HPABH4B

Location

Chromosome 14: 55,308,726-55,369,570 reverse strand.

GRCh37:CM000676.1

About this gene

This gene has 6 transcripts (splice variants) and is associated with 6 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000491895.2GCH1-0022943250aaENSP00000419045.2
 
Protein coding
CCDS9720P30793 Q8IZH9 Q96T74
NM_000161.2GENCODE basic
ENST00000395514.1GCH1-2011977250aaENSP00000378890.1
 
Protein coding
CCDS9720P30793 Q8IZH9 Q96T74
NM_001024024.1GENCODE basic
ENST00000543643.2GCH1-0031897233aaENSP00000444011.2
 
Protein coding
CCDS41954P30793 NM_001024070.1GENCODE basic
ENST00000536224.2GCH1-0041805213aaENSP00000445246.2
 
Protein coding
CCDS45110P30793 NM_001024071.1GENCODE basic
ENST00000254299.4GCH1-0012901No protein-
 
Processed transcript
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ENST00000395521.6GCH1-005351No protein-
 
Processed transcript
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