Canonical Allele Identifier: CA254720
Gene: GCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 9274
ClinVar RCV Id: RCV000009856
dbSNP Id: rs104894438
MyVariant Identifiers: chr14:g.55312510C>T (hg19) chr14:g.54845792C>T (hg38)
PubMed: PMID:7730309 PMID:11026444
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.54845792C>T , CM000676.2:g.54845792C>T GRCh38
NC_000014.8:g.55312510C>T , CM000676.1:g.55312510C>T GRCh37
NC_000014.7:g.54382260C>T NCBI36
NG_008647.1:g.62033G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000491895.7:c.602G>A MANE Select ENSP00000419045.2:p.Gly201Glu
ENST00000254299.8:n.750G>A
ENST00000395514.5:c.602G>A ENSP00000378890.1:p.Gly201Glu
ENST00000395521.6:n.293-2738G>A
ENST00000491895.6:c.602G>A ENSP00000419045.2:p.Gly201Glu
ENST00000536224.2:c.602G>A ENSP00000445246.2:p.Gly201Glu
ENST00000543643.6:c.602G>A ENSP00000444011.2:p.Gly201Glu
ENST00000622544.4:c.602G>A ENSP00000477796.1:p.Gly201Glu
NM_000161.2:c.602G>A NP_000152.1:p.Gly201Glu
NM_001024024.1:c.602G>A NP_001019195.1:p.Gly201Glu
NM_001024070.1:c.602G>A NP_001019241.1:p.Gly201Glu
NM_001024071.1:c.602G>A NP_001019242.1:p.Gly201Glu
XM_005267530.1:c.602G>A XP_005267587.1:p.Gly201Glu
XM_017021218.1:c.308G>A XP_016876707.1:p.Gly103Glu
NM_000161.3:c.602G>A MANE Select NP_000152.1:p.Gly201Glu
NM_001024070.2:c.602G>A NP_001019241.1:p.Gly201Glu
NM_001024071.2:c.602G>A NP_001019242.1:p.Gly201Glu
NM_001024024.2:c.602G>A NP_001019195.1:p.Gly201Glu
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