Canonical Allele Identifier: CA2695219309

Gene: GCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54845826dup , CM000676.2:g.54845826dup	GRCh38
NC_000014.8:g.55312544dup , CM000676.1:g.55312544dup	GRCh37
NC_000014.7:g.54382294dup	NCBI36
NG_008647.1:g.61999dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.568dup MANE Select	ENSP00000419045.2:p.Ala190GlyfsTer18
ENST00000254299.8:n.716dup
ENST00000395514.5:c.568dup	ENSP00000378890.1:p.Ala190GlyfsTer18
ENST00000395521.6:n.293-2772dup
ENST00000491895.6:c.568dup	ENSP00000419045.2:p.Ala190GlyfsTer18
ENST00000536224.2:c.568dup	ENSP00000445246.2:p.Ala190GlyfsTer18
ENST00000543643.6:c.568dup	ENSP00000444011.2:p.Ala190GlyfsTer18
ENST00000622544.4:c.568dup	ENSP00000477796.1:p.Ala190GlyfsTer18
NM_000161.2:c.568dup	NP_000152.1:p.Ala190GlyfsTer18
NM_001024024.1:c.568dup	NP_001019195.1:p.Ala190GlyfsTer18
NM_001024070.1:c.568dup	NP_001019241.1:p.Ala190GlyfsTer18
NM_001024071.1:c.568dup	NP_001019242.1:p.Ala190GlyfsTer18
XM_005267530.1:c.568dup	XP_005267587.1:p.Ala190GlyfsTer18
XM_017021218.1:c.274dup	XP_016876707.1:p.Ala92GlyfsTer18
NM_000161.3:c.568dup MANE Select	NP_000152.1:p.Ala190GlyfsTer18
NM_001024070.2:c.568dup	NP_001019241.1:p.Ala190GlyfsTer18
NM_001024071.2:c.568dup	NP_001019242.1:p.Ala190GlyfsTer18
NM_001024024.2:c.568dup	NP_001019195.1:p.Ala190GlyfsTer18