Canonical Allele Identifier: CA2553543085

Gene: GCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54844142_54844143insAACTTTA , CM000676.2:g.54844142_54844143insAACTTTA	GRCh38
NC_000014.8:g.55310860_55310861insAACTTTA , CM000676.1:g.55310860_55310861insAACTTTA	GRCh37
NC_000014.7:g.54380610_54380611insAACTTTA	NCBI36
NG_008647.1:g.63682_63683insTAAAGTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000491895.7:c.627_628insTAAAGTT MANE Select	ENSP00000419045.2:p.His210Ter
ENST00000254299.8:n.775_776insTAAAGTT
ENST00000395514.5:c.627_628insTAAAGTT	ENSP00000378890.1:p.His210Ter
ENST00000395521.6:n.293-1089_293-1088insTAAAGTT
ENST00000491895.6:c.627_628insTAAAGTT	ENSP00000419045.2:p.His210Ter
ENST00000536224.2:c.627-1089_627-1088insTAAAGTT	ENSP00000445246.2:n.627-1089_627-1088insT...
ENST00000543643.6:c.627-274_627-273insTAAAGTT	ENSP00000444011.2:n.627-274_627-273insTAA...
ENST00000622544.4:c.627_628insTAAAGTT	ENSP00000477796.1:p.His210Ter
NM_000161.2:c.627_628insTAAAGTT	NP_000152.1:p.His210Ter
NM_001024024.1:c.627_628insTAAAGTT	NP_001019195.1:p.His210Ter
NM_001024070.1:c.627-274_627-273insTAAAGTT	NP_001019241.1:n.627-274_627-273insTAAAGT...
NM_001024071.1:c.627-1089_627-1088insTAAAGTT	NP_001019242.1:n.627-1089_627-1088insTAAA...
XM_005267530.1:c.627-274_627-273insTAAAGTT	XP_005267587.1:n.627-274_627-273insTAAAGT...
XM_017021218.1:c.333_334insTAAAGTT	XP_016876707.1:p.His112Ter
NM_000161.3:c.627_628insTAAAGTT MANE Select	NP_000152.1:p.His210Ter
NM_001024070.2:c.627-274_627-273insTAAAGTT	NP_001019241.1:n.627-274_627-273insTAAAGT...
NM_001024071.2:c.627-1089_627-1088insTAAAGTT	NP_001019242.1:n.627-1089_627-1088insTAAA...
NM_001024024.2:c.627_628insTAAAGTT	NP_001019195.1:p.His210Ter