Canonical Allele Identifier: CA2138218894

Gene: GCH1

Linked Data

• dbSNP Id: rs2039630868

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54845641_54845663dup , CM000676.2:g.54845641_54845663dup	GRCh38
NC_000014.8:g.55312359_55312381dup , CM000676.1:g.55312359_55312381dup	GRCh37
NC_000014.7:g.54382109_54382131dup	NCBI36
NG_008647.1:g.62162_62184dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.626+105_626+127dup MANE Select	ENSP00000419045.2:n.626+105_626+127dup
ENST00000254299.8:n.774+105_774+127dup
ENST00000395514.5:c.626+105_626+127dup	ENSP00000378890.1:n.626+105_626+127dup
ENST00000395521.6:n.293-2609_293-2587dup
ENST00000491895.6:c.626+105_626+127dup	ENSP00000419045.2:n.626+105_626+127dup
ENST00000536224.2:c.626+105_626+127dup	ENSP00000445246.2:n.626+105_626+127dup
ENST00000543643.6:c.626+105_626+127dup	ENSP00000444011.2:n.626+105_626+127dup
ENST00000622544.4:c.626+105_626+127dup	ENSP00000477796.1:n.626+105_626+127dup
NM_000161.2:c.626+105_626+127dup	NP_000152.1:n.626+105_626+127dup
NM_001024024.1:c.626+105_626+127dup	NP_001019195.1:n.626+105_626+127dup
NM_001024070.1:c.626+105_626+127dup	NP_001019241.1:n.626+105_626+127dup
NM_001024071.1:c.626+105_626+127dup	NP_001019242.1:n.626+105_626+127dup
XM_005267530.1:c.626+105_626+127dup	XP_005267587.1:n.626+105_626+127dup
XM_017021218.1:c.332+105_332+127dup	XP_016876707.1:n.332+105_332+127dup
NM_000161.3:c.626+105_626+127dup MANE Select	NP_000152.1:n.626+105_626+127dup
NM_001024070.2:c.626+105_626+127dup	NP_001019241.1:n.626+105_626+127dup
NM_001024071.2:c.626+105_626+127dup	NP_001019242.1:n.626+105_626+127dup
NM_001024024.2:c.626+105_626+127dup	NP_001019195.1:n.626+105_626+127dup