Canonical Allele Identifier: CA254723
Gene: GCH1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 9278
ClinVar RCV Id: RCV000009860
dbSNP Id: rs104894440

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.54865349T>G , CM000676.2:g.54865349T>G GRCh38
NC_000014.8:g.55332067T>G , CM000676.1:g.55332067T>G GRCh37
NC_000014.7:g.54401817T>G NCBI36
NG_008647.1:g.42476A>C

Transcript Alleles

HGVS Amino-acid change
NM_000161.2:c.431A>C VV NP_000152.1:p.His144Pro
NM_001024024.1:c.431A>C VV NP_001019195.1:p.His144Pro
NM_001024070.1:c.431A>C VV NP_001019241.1:p.His144Pro
NM_001024071.1:c.431A>C VV NP_001019242.1:p.His144Pro
XM_005267530.1:c.431A>C XP_005267587.1:p.His144Pro
XM_011536643.1:c.431A>C XP_011534945.1:p.His144Pro
XM_017021218.1:c.137A>C XP_016876707.1:p.His46Pro
NM_000161.3:c.431A>C VV MANE Preferred NP_000152.1:p.His144Pro
ENST00000254299.8:n.579A>C
ENST00000395514.5:c.431A>C ENSP00000378890.1:p.His144Pro
ENST00000395521.6:n.214A>C
ENST00000491895.6:c.431A>C ENSP00000419045.2:p.His144Pro
ENST00000536224.2:c.431A>C ENSP00000445246.2:p.His144Pro
ENST00000543643.6:c.431A>C ENSP00000444011.2:p.His144Pro
ENST00000622544.4:c.431A>C ENSP00000477796.1:p.His144Pro