Canonical Allele Identifier: CA120280
Gene: GCH1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 9283
dbSNP Id: rs41298442

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.54844099T>C , CM000676.2:g.54844099T>C GRCh38
NC_000014.8:g.55310817T>C , CM000676.1:g.55310817T>C GRCh37
NC_000014.7:g.54380567T>C NCBI36
NG_008647.1:g.63726A>G

Transcript Alleles

HGVS Amino-acid change
NM_000161.2:c.671A>G VV NP_000152.1:p.Lys224Arg
NM_001024024.1:c.671A>G VV NP_001019195.1:p.Lys224Arg
NM_001024070.1:c.627-230A>G VV NP_001019241.1:p.=
NM_001024071.1:c.627-1045A>G VV NP_001019242.1:p.=
XM_005267530.1:c.627-230A>G XP_005267587.1:p.=
XM_017021218.1:c.377A>G XP_016876707.1:p.Lys126Arg
NM_000161.3:c.671A>G VV MANE Preferred NP_000152.1:p.Lys224Arg
ENST00000254299.8:n.819A>G
ENST00000395514.5:c.671A>G ENSP00000378890.1:p.Lys224Arg
ENST00000395521.6:n.293-1045A>G
ENST00000491895.6:c.671A>G ENSP00000419045.2:p.Lys224Arg
ENST00000536224.2:c.627-1045A>G ENSP00000445246.2:p.=
ENST00000543643.6:c.627-230A>G ENSP00000444011.2:p.=
ENST00000622544.4:c.671A>G ENSP00000477796.1:p.Lys224Arg