Canonical Allele Identifier: CA2138218981

Gene: GCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54845822A= , CM000676.2:g.54845822A=	GRCh38
NC_000014.8:g.55312540A= , CM000676.1:g.55312540A=	GRCh37
NC_000014.7:g.54382290A=	NCBI36
NG_008647.1:g.62003T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.572T= MANE Select	ENSP00000419045.2:p.Val191=
ENST00000254299.8:n.720T=
ENST00000395514.5:c.572T=	ENSP00000378890.1:p.Val191=
ENST00000395521.6:n.293-2768T=
ENST00000491895.6:c.572T=	ENSP00000419045.2:p.Val191=
ENST00000536224.2:c.572T=	ENSP00000445246.2:p.Val191=
ENST00000543643.6:c.572T=	ENSP00000444011.2:p.Val191=
ENST00000622544.4:c.572T=	ENSP00000477796.1:p.Val191=
NM_000161.2:c.572T=	NP_000152.1:p.Val191=
NM_001024024.1:c.572T=	NP_001019195.1:p.Val191=
NM_001024070.1:c.572T=	NP_001019241.1:p.Val191=
NM_001024071.1:c.572T=	NP_001019242.1:p.Val191=
XM_005267530.1:c.572T=	XP_005267587.1:p.Val191=
XM_017021218.1:c.278T=	XP_016876707.1:p.Val93=
NM_000161.3:c.572T= MANE Select	NP_000152.1:p.Val191=
NM_001024070.2:c.572T=	NP_001019241.1:p.Val191=
NM_001024071.2:c.572T=	NP_001019242.1:p.Val191=
NM_001024024.2:c.572T=	NP_001019195.1:p.Val191=