Canonical Allele Identifier: CA2138218008

Gene: GCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54843644T= , CM000676.2:g.54843644T=	GRCh38
NC_000014.8:g.55310362T= , CM000676.1:g.55310362T=	GRCh37
NC_000014.7:g.54380112T=	NCBI36
NG_008647.1:g.64181A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.*373A= MANE Select	ENSP00000419045.2:n.*373A=
ENST00000254299.8:n.1274A=
ENST00000395514.5:c.*16+357A=	ENSP00000378890.1:n.*16+357A=
ENST00000395521.6:n.293-590A=
ENST00000491895.6:c.*373A=	ENSP00000419045.2:n.*373A=
ENST00000536224.2:c.627-590A=	ENSP00000445246.2:n.627-590A=
ENST00000543643.6:c.*12+138A=	ENSP00000444011.2:n.*12+138A=
ENST00000622544.4:c.*373A=	ENSP00000477796.1:n.*373A=
NM_000161.2:c.*373A=	NP_000152.1:n.*373A=
NM_001024024.1:c.*16+357A=	NP_001019195.1:n.*16+357A=
NM_001024070.1:c.*12+138A=	NP_001019241.1:n.*12+138A=
NM_001024071.1:c.627-590A=	NP_001019242.1:n.627-590A=
XM_005267530.1:c.*150A=	XP_005267587.1:n.*150A=
XM_017021218.1:c.*373A=	XP_016876707.1:n.*373A=
NM_000161.3:c.*373A= MANE Select	NP_000152.1:n.*373A=
NM_001024070.2:c.*12+138A=	NP_001019241.1:n.*12+138A=
NM_001024071.2:c.627-590A=	NP_001019242.1:n.627-590A=
NM_001024024.2:c.*16+357A=	NP_001019195.1:n.*16+357A=