Canonical Allele Identifier: CA120283
Gene: GCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 9290
ClinVar RCV Id: RCV000009873 RCV003137509
dbSNP Id: rs104894445
gnomAD v4: 14-54845843-C-T
MyVariant Identifiers: chr14:g.55312561C>T (hg19) chr14:g.54845843C>T (hg38)
PubMed: PMID:5355377 PMID:7730309
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.54845843C>T , CM000676.2:g.54845843C>T GRCh38
NC_000014.8:g.55312561C>T , CM000676.1:g.55312561C>T GRCh37
NC_000014.7:g.54382311C>T NCBI36
NG_008647.1:g.61982G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000491895.7:c.551G>A MANE Select ENSP00000419045.2:p.Arg184His
ENST00000254299.8:n.699G>A
ENST00000395514.5:c.551G>A ENSP00000378890.1:p.Arg184His
ENST00000395521.6:n.293-2789G>A
ENST00000491895.6:c.551G>A ENSP00000419045.2:p.Arg184His
ENST00000536224.2:c.551G>A ENSP00000445246.2:p.Arg184His
ENST00000543643.6:c.551G>A ENSP00000444011.2:p.Arg184His
ENST00000622544.4:c.551G>A ENSP00000477796.1:p.Arg184His
NM_000161.2:c.551G>A NP_000152.1:p.Arg184His
NM_001024024.1:c.551G>A NP_001019195.1:p.Arg184His
NM_001024070.1:c.551G>A NP_001019241.1:p.Arg184His
NM_001024071.1:c.551G>A NP_001019242.1:p.Arg184His
XM_005267530.1:c.551G>A XP_005267587.1:p.Arg184His
XM_017021218.1:c.257G>A XP_016876707.1:p.Arg86His
NM_000161.3:c.551G>A MANE Select NP_000152.1:p.Arg184His
NM_001024070.2:c.551G>A NP_001019241.1:p.Arg184His
NM_001024071.2:c.551G>A NP_001019242.1:p.Arg184His
NM_001024024.2:c.551G>A NP_001019195.1:p.Arg184His
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