Canonical Allele Identifier: CA2138217991

Gene: GCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54843600G= , CM000676.2:g.54843600G=	GRCh38
NC_000014.8:g.55310318G= , CM000676.1:g.55310318G=	GRCh37
NC_000014.7:g.54380068G=	NCBI36
NG_008647.1:g.64225C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.*417C= MANE Select	ENSP00000419045.2:n.*417C=
ENST00000254299.8:n.1318C=
ENST00000395514.5:c.*16+401C=	ENSP00000378890.1:n.*16+401C=
ENST00000395521.6:n.293-546C=
ENST00000491895.6:c.*417C=	ENSP00000419045.2:n.*417C=
ENST00000536224.2:c.627-546C=	ENSP00000445246.2:n.627-546C=
ENST00000543643.6:c.*12+182C=	ENSP00000444011.2:n.*12+182C=
ENST00000622544.4:c.*417C=	ENSP00000477796.1:n.*417C=
NM_000161.2:c.*417C=	NP_000152.1:n.*417C=
NM_001024024.1:c.*16+401C=	NP_001019195.1:n.*16+401C=
NM_001024070.1:c.*12+182C=	NP_001019241.1:n.*12+182C=
NM_001024071.1:c.627-546C=	NP_001019242.1:n.627-546C=
XM_005267530.1:c.*194C=	XP_005267587.1:n.*194C=
XM_017021218.1:c.*417C=	XP_016876707.1:n.*417C=
NM_000161.3:c.*417C= MANE Select	NP_000152.1:n.*417C=
NM_001024070.2:c.*12+182C=	NP_001019241.1:n.*12+182C=
NM_001024071.2:c.627-546C=	NP_001019242.1:n.627-546C=
NM_001024024.2:c.*16+401C=	NP_001019195.1:n.*16+401C=