Canonical Allele Identifier: CA2138217974

Gene: GCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54843543A= , CM000676.2:g.54843543A=	GRCh38
NC_000014.8:g.55310261A= , CM000676.1:g.55310261A=	GRCh37
NC_000014.7:g.54380011A=	NCBI36
NG_008647.1:g.64282T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.*474T= MANE Select	ENSP00000419045.2:n.*474T=
ENST00000254299.8:n.1375T=
ENST00000395514.5:c.*16+458T=	ENSP00000378890.1:n.*16+458T=
ENST00000395521.6:n.293-489T=
ENST00000491895.6:c.*474T=	ENSP00000419045.2:n.*474T=
ENST00000536224.2:c.627-489T=	ENSP00000445246.2:n.627-489T=
ENST00000543643.6:c.*12+239T=	ENSP00000444011.2:n.*12+239T=
ENST00000622544.4:c.*474T=	ENSP00000477796.1:n.*474T=
NM_000161.2:c.*474T=	NP_000152.1:n.*474T=
NM_001024024.1:c.*16+458T=	NP_001019195.1:n.*16+458T=
NM_001024070.1:c.*12+239T=	NP_001019241.1:n.*12+239T=
NM_001024071.1:c.627-489T=	NP_001019242.1:n.627-489T=
XM_005267530.1:c.*251T=	XP_005267587.1:n.*251T=
XM_017021218.1:c.*474T=	XP_016876707.1:n.*474T=
NM_000161.3:c.*474T= MANE Select	NP_000152.1:n.*474T=
NM_001024070.2:c.*12+239T=	NP_001019241.1:n.*12+239T=
NM_001024071.2:c.627-489T=	NP_001019242.1:n.627-489T=
NM_001024024.2:c.*16+458T=	NP_001019195.1:n.*16+458T=