Canonical Allele Identifier: CA963329929

Gene: GCH1

Linked Data

• dbSNP Id: rs2039630655
• gnomAD v3: 14-54845634-T-TAA
• gnomAD v4: 14-54845634-T-TAA

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54845634_54845635insAA , CM000676.2:g.54845634_54845635insAA	GRCh38
NC_000014.8:g.55312352_55312353insAA , CM000676.1:g.55312352_55312353insAA	GRCh37
NC_000014.7:g.54382102_54382103insAA	NCBI36
NG_008647.1:g.62190_62191insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.626+133_626+134insTT MANE Select	ENSP00000419045.2:n.626+133_626+134insTT
ENST00000254299.8:n.774+133_774+134insTT
ENST00000395514.5:c.626+133_626+134insTT	ENSP00000378890.1:n.626+133_626+134insTT
ENST00000395521.6:n.293-2581_293-2580insTT
ENST00000491895.6:c.626+133_626+134insTT	ENSP00000419045.2:n.626+133_626+134insTT
ENST00000536224.2:c.626+133_626+134insTT	ENSP00000445246.2:n.626+133_626+134insTT
ENST00000543643.6:c.626+133_626+134insTT	ENSP00000444011.2:n.626+133_626+134insTT
ENST00000622544.4:c.626+133_626+134insTT	ENSP00000477796.1:n.626+133_626+134insTT
NM_000161.2:c.626+133_626+134insTT	NP_000152.1:n.626+133_626+134insTT
NM_001024024.1:c.626+133_626+134insTT	NP_001019195.1:n.626+133_626+134insTT
NM_001024070.1:c.626+133_626+134insTT	NP_001019241.1:n.626+133_626+134insTT
NM_001024071.1:c.626+133_626+134insTT	NP_001019242.1:n.626+133_626+134insTT
XM_005267530.1:c.626+133_626+134insTT	XP_005267587.1:n.626+133_626+134insTT
XM_017021218.1:c.332+133_332+134insTT	XP_016876707.1:n.332+133_332+134insTT
NM_000161.3:c.626+133_626+134insTT MANE Select	NP_000152.1:n.626+133_626+134insTT
NM_001024070.2:c.626+133_626+134insTT	NP_001019241.1:n.626+133_626+134insTT
NM_001024071.2:c.626+133_626+134insTT	NP_001019242.1:n.626+133_626+134insTT
NM_001024024.2:c.626+133_626+134insTT	NP_001019195.1:n.626+133_626+134insTT