Canonical Allele Identifier: CA2138218058

Gene: GCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54843742C= , CM000676.2:g.54843742C=	GRCh38
NC_000014.8:g.55310460C= , CM000676.1:g.55310460C=	GRCh37
NC_000014.7:g.54380210C=	NCBI36
NG_008647.1:g.64083G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.*275G= MANE Select	ENSP00000419045.2:n.*275G=
ENST00000254299.8:n.1176G=
ENST00000395514.5:c.*16+259G=	ENSP00000378890.1:n.*16+259G=
ENST00000395521.6:n.293-688G=
ENST00000491895.6:c.*275G=	ENSP00000419045.2:n.*275G=
ENST00000536224.2:c.627-688G=	ENSP00000445246.2:n.627-688G=
ENST00000543643.6:c.*12+40G=	ENSP00000444011.2:n.*12+40G=
ENST00000622544.4:c.*275G=	ENSP00000477796.1:n.*275G=
NM_000161.2:c.*275G=	NP_000152.1:n.*275G=
NM_001024024.1:c.*16+259G=	NP_001019195.1:n.*16+259G=
NM_001024070.1:c.*12+40G=	NP_001019241.1:n.*12+40G=
NM_001024071.1:c.627-688G=	NP_001019242.1:n.627-688G=
XM_005267530.1:c.*52G=	XP_005267587.1:n.*52G=
XM_017021218.1:c.*275G=	XP_016876707.1:n.*275G=
NM_000161.3:c.*275G= MANE Select	NP_000152.1:n.*275G=
NM_001024070.2:c.*12+40G=	NP_001019241.1:n.*12+40G=
NM_001024071.2:c.627-688G=	NP_001019242.1:n.627-688G=
NM_001024024.2:c.*16+259G=	NP_001019195.1:n.*16+259G=