Canonical Allele Identifier: CA2138251499

Gene: GCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54902425C= , CM000676.2:g.54902425C=	GRCh38
NC_000014.8:g.55369143C= , CM000676.1:g.55369143C=	GRCh37
NC_000014.7:g.54438893C=	NCBI36
NG_008647.1:g.5400G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000161.3:c.239G= MANE Select	NP_000152.1:p.Ser80=
ENST00000491895.7:c.239G= MANE Select	ENSP00000419045.2:p.Ser80=
NM_000161.2:c.239G=	NP_000152.1:p.Ser80=
NM_001024024.1:c.239G=	NP_001019195.1:p.Ser80=
NM_001024024.2:c.239G=	NP_001019195.1:p.Ser80=
NM_001024070.1:c.239G=	NP_001019241.1:p.Ser80=
NM_001024070.2:c.239G=	NP_001019241.1:p.Ser80=
NM_001024071.1:c.239G=	NP_001019242.1:p.Ser80=
NM_001024071.2:c.239G=	NP_001019242.1:p.Ser80=
ENST00000254299.8:n.387G=
ENST00000395514.5:c.239G=	ENSP00000378890.1:p.Ser80=
ENST00000395521.6:n.22G=
ENST00000491895.6:c.239G=	ENSP00000419045.2:p.Ser80=
ENST00000536224.2:c.239G=	ENSP00000445246.2:p.Ser80=
ENST00000543643.6:c.239G=	ENSP00000444011.2:p.Ser80=
ENST00000622544.4:c.239G=	ENSP00000477796.1:p.Ser80=
XM_005267530.1:c.239G=	XP_005267587.1:p.Ser80=
XM_011536643.1:c.239G=	XP_011534945.1:p.Ser80=