Canonical Allele Identifier: CA120284
Gene: GCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 9292
ClinVar RCV Id: RCV002508116
dbSNP Id: rs137852633
MyVariant Identifiers: chr14:g.55312517G>C (hg19) chr14:g.54845799G>C (hg38)
PubMed: PMID:12552057 PMID:15303002
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.54845799G>C , CM000676.2:g.54845799G>C GRCh38
NC_000014.8:g.55312517G>C , CM000676.1:g.55312517G>C GRCh37
NC_000014.7:g.54382267G>C NCBI36
NG_008647.1:g.62026C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000491895.7:c.595C>G MANE Select ENSP00000419045.2:p.Pro199Ala
ENST00000254299.8:n.743C>G
ENST00000395514.5:c.595C>G ENSP00000378890.1:p.Pro199Ala
ENST00000395521.6:n.293-2745C>G
ENST00000491895.6:c.595C>G ENSP00000419045.2:p.Pro199Ala
ENST00000536224.2:c.595C>G ENSP00000445246.2:p.Pro199Ala
ENST00000543643.6:c.595C>G ENSP00000444011.2:p.Pro199Ala
ENST00000622544.4:c.595C>G ENSP00000477796.1:p.Pro199Ala
NM_000161.2:c.595C>G NP_000152.1:p.Pro199Ala
NM_001024024.1:c.595C>G NP_001019195.1:p.Pro199Ala
NM_001024070.1:c.595C>G NP_001019241.1:p.Pro199Ala
NM_001024071.1:c.595C>G NP_001019242.1:p.Pro199Ala
XM_005267530.1:c.595C>G XP_005267587.1:p.Pro199Ala
XM_017021218.1:c.301C>G XP_016876707.1:p.Pro101Ala
NM_000161.3:c.595C>G MANE Select NP_000152.1:p.Pro199Ala
NM_001024070.2:c.595C>G NP_001019241.1:p.Pro199Ala
NM_001024071.2:c.595C>G NP_001019242.1:p.Pro199Ala
NM_001024024.2:c.595C>G NP_001019195.1:p.Pro199Ala
Search 100 bp 5'
Search 100 bp 3'