Canonical Allele Identifier: CA389793858
Gene: GCH1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.54902432T>G , CM000676.2:g.54902432T>G GRCh38
NC_000014.8:g.55369150T>G , CM000676.1:g.55369150T>G GRCh37
NC_000014.7:g.54438900T>G NCBI36
NG_008647.1:g.5393A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000491895.7:c.232A>C MANE Select ENSP00000419045.2:p.Ile78Leu
ENST00000254299.8:n.380A>C
ENST00000395514.5:c.232A>C ENSP00000378890.1:p.Ile78Leu
ENST00000395521.6:n.15A>C
ENST00000491895.6:c.232A>C ENSP00000419045.2:p.Ile78Leu
ENST00000536224.2:c.232A>C ENSP00000445246.2:p.Ile78Leu
ENST00000543643.6:c.232A>C ENSP00000444011.2:p.Ile78Leu
ENST00000622544.4:c.232A>C ENSP00000477796.1:p.Ile78Leu
NM_000161.2:c.232A>C NP_000152.1:p.Ile78Leu
NM_001024024.1:c.232A>C NP_001019195.1:p.Ile78Leu
NM_001024070.1:c.232A>C NP_001019241.1:p.Ile78Leu
NM_001024071.1:c.232A>C NP_001019242.1:p.Ile78Leu
XM_005267530.1:c.232A>C XP_005267587.1:p.Ile78Leu
XM_011536643.1:c.232A>C XP_011534945.1:p.Ile78Leu
NM_000161.3:c.232A>C MANE Select NP_000152.1:p.Ile78Leu
NM_001024070.2:c.232A>C NP_001019241.1:p.Ile78Leu
NM_001024071.2:c.232A>C NP_001019242.1:p.Ile78Leu
NM_001024024.2:c.232A>C NP_001019195.1:p.Ile78Leu