Canonical Allele Identifier: CA2138218140

Gene: GCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54843940G= , CM000676.2:g.54843940G=	GRCh38
NC_000014.8:g.55310658G= , CM000676.1:g.55310658G=	GRCh37
NC_000014.7:g.54380408G=	NCBI36
NG_008647.1:g.63885C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000491895.7:c.*77C= MANE Select	ENSP00000419045.2:n.*77C=
ENST00000254299.8:n.978C=
ENST00000395514.5:c.*16+61C=	ENSP00000378890.1:n.*16+61C=
ENST00000395521.6:n.293-886C=
ENST00000491895.6:c.*77C=	ENSP00000419045.2:n.*77C=
ENST00000536224.2:c.627-886C=	ENSP00000445246.2:n.627-886C=
ENST00000543643.6:c.627-71C=	ENSP00000444011.2:n.627-71C=
ENST00000622544.4:c.*77C=	ENSP00000477796.1:n.*77C=
NM_000161.2:c.*77C=	NP_000152.1:n.*77C=
NM_001024024.1:c.*16+61C=	NP_001019195.1:n.*16+61C=
NM_001024070.1:c.627-71C=	NP_001019241.1:n.627-71C=
NM_001024071.1:c.627-886C=	NP_001019242.1:n.627-886C=
XM_005267530.1:c.627-71C=	XP_005267587.1:n.627-71C=
XM_017021218.1:c.*77C=	XP_016876707.1:n.*77C=
NM_000161.3:c.*77C= MANE Select	NP_000152.1:n.*77C=
NM_001024070.2:c.627-71C=	NP_001019241.1:n.627-71C=
NM_001024071.2:c.627-886C=	NP_001019242.1:n.627-886C=
NM_001024024.2:c.*16+61C=	NP_001019195.1:n.*16+61C=