Canonical Allele Identifier: CA2138219034

Gene: GCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54845952G= , CM000676.2:g.54845952G=	GRCh38
NC_000014.8:g.55312670G= , CM000676.1:g.55312670G=	GRCh37
NC_000014.7:g.54382420G=	NCBI36
NG_008647.1:g.61873C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.542-100C= MANE Select	ENSP00000419045.2:n.542-100C=
ENST00000254299.8:n.690-100C=
ENST00000395514.5:c.542-100C=	ENSP00000378890.1:n.542-100C=
ENST00000395521.6:n.293-2898C=
ENST00000491895.6:c.542-100C=	ENSP00000419045.2:n.542-100C=
ENST00000536224.2:c.542-100C=	ENSP00000445246.2:n.542-100C=
ENST00000543643.6:c.542-100C=	ENSP00000444011.2:n.542-100C=
ENST00000622544.4:c.542-100C=	ENSP00000477796.1:n.542-100C=
NM_000161.2:c.542-100C=	NP_000152.1:n.542-100C=
NM_001024024.1:c.542-100C=	NP_001019195.1:n.542-100C=
NM_001024070.1:c.542-100C=	NP_001019241.1:n.542-100C=
NM_001024071.1:c.542-100C=	NP_001019242.1:n.542-100C=
XM_005267530.1:c.542-100C=	XP_005267587.1:n.542-100C=
XM_017021218.1:c.248-100C=	XP_016876707.1:n.248-100C=
NM_000161.3:c.542-100C= MANE Select	NP_000152.1:n.542-100C=
NM_001024070.2:c.542-100C=	NP_001019241.1:n.542-100C=
NM_001024071.2:c.542-100C=	NP_001019242.1:n.542-100C=
NM_001024024.2:c.542-100C=	NP_001019195.1:n.542-100C=