Canonical Allele Identifier: CA2138218221

Gene: GCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54844140G= , CM000676.2:g.54844140G=	GRCh38
NC_000014.8:g.55310858G= , CM000676.1:g.55310858G=	GRCh37
NC_000014.7:g.54380608G=	NCBI36
NG_008647.1:g.63685C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000491895.7:c.630C= MANE Select	ENSP00000419045.2:p.His210=
ENST00000254299.8:n.778C=
ENST00000395514.5:c.630C=	ENSP00000378890.1:p.His210=
ENST00000395521.6:n.293-1086C=
ENST00000491895.6:c.630C=	ENSP00000419045.2:p.His210=
ENST00000536224.2:c.627-1086C=	ENSP00000445246.2:n.627-1086C=
ENST00000543643.6:c.627-271C=	ENSP00000444011.2:n.627-271C=
ENST00000622544.4:c.630C=	ENSP00000477796.1:p.His210=
NM_000161.2:c.630C=	NP_000152.1:p.His210=
NM_001024024.1:c.630C=	NP_001019195.1:p.His210=
NM_001024070.1:c.627-271C=	NP_001019241.1:n.627-271C=
NM_001024071.1:c.627-1086C=	NP_001019242.1:n.627-1086C=
XM_005267530.1:c.627-271C=	XP_005267587.1:n.627-271C=
XM_017021218.1:c.336C=	XP_016876707.1:p.His112=
NM_000161.3:c.630C= MANE Select	NP_000152.1:p.His210=
NM_001024070.2:c.627-271C=	NP_001019241.1:n.627-271C=
NM_001024071.2:c.627-1086C=	NP_001019242.1:n.627-1086C=
NM_001024024.2:c.630C=	NP_001019195.1:p.His210=