Canonical Allele Identifier: CA120282
Gene: GCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 9287
ClinVar RCV Id: RCV000009870
dbSNP Id: rs104894443
MyVariant Identifiers: chr14:g.55310855C>T (hg19) chr14:g.54844137C>T (hg38)
PubMed: PMID:7730309 PMID:7869202
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.54844137C>T , CM000676.2:g.54844137C>T GRCh38
NC_000014.8:g.55310855C>T , CM000676.1:g.55310855C>T GRCh37
NC_000014.7:g.54380605C>T NCBI36
NG_008647.1:g.63688G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000491895.7:c.633G>A MANE Select ENSP00000419045.2:p.Met211Ile
ENST00000254299.8:n.781G>A
ENST00000395514.5:c.633G>A ENSP00000378890.1:p.Met211Ile
ENST00000395521.6:n.293-1083G>A
ENST00000491895.6:c.633G>A ENSP00000419045.2:p.Met211Ile
ENST00000536224.2:c.627-1083G>A ENSP00000445246.2:n.627-1083G>A
ENST00000543643.6:c.627-268G>A ENSP00000444011.2:n.627-268G>A
ENST00000622544.4:c.633G>A ENSP00000477796.1:p.Met211Ile
NM_000161.2:c.633G>A NP_000152.1:p.Met211Ile
NM_001024024.1:c.633G>A NP_001019195.1:p.Met211Ile
NM_001024070.1:c.627-268G>A NP_001019241.1:n.627-268G>A
NM_001024071.1:c.627-1083G>A NP_001019242.1:n.627-1083G>A
XM_005267530.1:c.627-268G>A XP_005267587.1:n.627-268G>A
XM_017021218.1:c.339G>A XP_016876707.1:p.Met113Ile
NM_000161.3:c.633G>A MANE Select NP_000152.1:p.Met211Ile
NM_001024070.2:c.627-268G>A NP_001019241.1:n.627-268G>A
NM_001024071.2:c.627-1083G>A NP_001019242.1:n.627-1083G>A
NM_001024024.2:c.633G>A NP_001019195.1:p.Met211Ile
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