Canonical Allele Identifier: CA120283

Gene: GCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54845843C>T , CM000676.2:g.54845843C>T	GRCh38
NC_000014.8:g.55312561C>T , CM000676.1:g.55312561C>T	GRCh37
NC_000014.7:g.54382311C>T	NCBI36
NG_008647.1:g.61982G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000161.3:c.551G>A MANE Select	NP_000152.1:p.Arg184His
ENST00000491895.7:c.551G>A MANE Select	ENSP00000419045.2:p.Arg184His
NM_000161.2:c.551G>A	NP_000152.1:p.Arg184His
NM_001024024.1:c.551G>A	NP_001019195.1:p.Arg184His
NM_001024024.2:c.551G>A	NP_001019195.1:p.Arg184His
NM_001024070.1:c.551G>A	NP_001019241.1:p.Arg184His
NM_001024070.2:c.551G>A	NP_001019241.1:p.Arg184His
NM_001024071.1:c.551G>A	NP_001019242.1:p.Arg184His
NM_001024071.2:c.551G>A	NP_001019242.1:p.Arg184His
ENST00000254299.8:n.699G>A
ENST00000395514.5:c.551G>A	ENSP00000378890.1:p.Arg184His
ENST00000395521.6:n.293-2789G>A
ENST00000491895.6:c.551G>A	ENSP00000419045.2:p.Arg184His
ENST00000536224.2:c.551G>A	ENSP00000445246.2:p.Arg184His
ENST00000543643.6:c.551G>A	ENSP00000444011.2:p.Arg184His
ENST00000622544.4:c.551G>A	ENSP00000477796.1:p.Arg184His
XM_005267530.1:c.551G>A	XP_005267587.1:p.Arg184His
XM_017021218.1:c.257G>A	XP_016876707.1:p.Arg86His