Canonical Allele Identifier: CA10640295

Gene: GCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54842553_54842554dup , CM000676.2:g.54842553_54842554dup	GRCh38
NC_000014.8:g.55309271_55309272dup , CM000676.1:g.55309271_55309272dup	GRCh37
NC_000014.7:g.54379021_54379022dup	NCBI36
NG_008647.1:g.65271_65272dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.*1463_*1464dup MANE Select	ENSP00000419045.2:n.*1463_*1464dup
ENST00000254299.8:n.2364_2365dup
ENST00000395514.5:c.*517_*518dup	ENSP00000378890.1:n.*517_*518dup
ENST00000491895.6:c.*1463_*1464dup	ENSP00000419045.2:n.*1463_*1464dup
ENST00000536224.2:c.*485_*486dup	ENSP00000445246.2:n.*485_*486dup
ENST00000543643.6:c.*513_*514dup	ENSP00000444011.2:n.*513_*514dup
ENST00000622544.4:c.*1463_*1464dup	ENSP00000477796.1:n.*1463_*1464dup
NM_000161.2:c.*1463_*1464dup	NP_000152.1:n.*1463_*1464dup
NM_001024024.1:c.*517_*518dup	NP_001019195.1:n.*517_*518dup
NM_001024070.1:c.*513_*514dup	NP_001019241.1:n.*513_*514dup
NM_001024071.1:c.*485_*486dup	NP_001019242.1:n.*485_*486dup
XM_005267530.1:c.*1240_*1241dup	XP_005267587.1:n.*1240_*1241dup
XM_017021218.1:c.*1463_*1464dup	XP_016876707.1:n.*1463_*1464dup
NM_000161.3:c.*1463_*1464dup MANE Select	NP_000152.1:n.*1463_*1464dup
NM_001024070.2:c.*513_*514dup	NP_001019241.1:n.*513_*514dup
NM_001024071.2:c.*485_*486dup	NP_001019242.1:n.*485_*486dup
NM_001024024.2:c.*517_*518dup	NP_001019195.1:n.*517_*518dup