Canonical Allele Identifier: CA2138218201

Gene: GCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54844099T= , CM000676.2:g.54844099T=	GRCh38
NC_000014.8:g.55310817T= , CM000676.1:g.55310817T=	GRCh37
NC_000014.7:g.54380567T=	NCBI36
NG_008647.1:g.63726A=

Transcript Alleles

HGVS	Amino-acid Change
NM_000161.3:c.671A= MANE Select	NP_000152.1:p.Lys224=
ENST00000491895.7:c.671A= MANE Select	ENSP00000419045.2:p.Lys224=
NM_000161.2:c.671A=	NP_000152.1:p.Lys224=
NM_001024024.1:c.671A=	NP_001019195.1:p.Lys224=
NM_001024024.2:c.671A=	NP_001019195.1:p.Lys224=
NM_001024070.1:c.627-230A=	NP_001019241.1:n.627-230A=
NM_001024070.2:c.627-230A=	NP_001019241.1:n.627-230A=
NM_001024071.1:c.627-1045A=	NP_001019242.1:n.627-1045A=
NM_001024071.2:c.627-1045A=	NP_001019242.1:n.627-1045A=
ENST00000254299.8:n.819A=
ENST00000395514.5:c.671A=	ENSP00000378890.1:p.Lys224=
ENST00000395521.6:n.293-1045A=
ENST00000491895.6:c.671A=	ENSP00000419045.2:p.Lys224=
ENST00000536224.2:c.627-1045A=	ENSP00000445246.2:n.627-1045A=
ENST00000543643.6:c.627-230A=	ENSP00000444011.2:n.627-230A=
ENST00000622544.4:c.671A=	ENSP00000477796.1:p.Lys224=
XM_005267530.1:c.627-230A=	XP_005267587.1:n.627-230A=
XM_017021218.1:c.377A=	XP_016876707.1:p.Lys126=