Canonical Allele Identifier: CA2543017591

Gene: GCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54857997_54857998insC , CM000676.2:g.54857997_54857998insC	GRCh38
NC_000014.8:g.55324715_55324716insC , CM000676.1:g.55324715_55324716insC	GRCh37
NC_000014.7:g.54394465_54394466insC	NCBI36
NG_008647.1:g.49827_49828insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.509+1683_509+1684insG MANE Select	ENSP00000419045.2:n.509+1683_509+1684insG
ENST00000254299.8:n.657+1683_657+1684insG
ENST00000395514.5:c.509+1683_509+1684insG	ENSP00000378890.1:n.509+1683_509+1684insG
ENST00000395521.6:n.292+1683_292+1684insG
ENST00000491895.6:c.509+1683_509+1684insG	ENSP00000419045.2:n.509+1683_509+1684insG
ENST00000536224.2:c.509+1683_509+1684insG	ENSP00000445246.2:n.509+1683_509+1684insG
ENST00000543643.6:c.509+1683_509+1684insG	ENSP00000444011.2:n.509+1683_509+1684insG
ENST00000622544.4:c.509+1683_509+1684insG	ENSP00000477796.1:n.509+1683_509+1684insG
NM_000161.2:c.509+1683_509+1684insG	NP_000152.1:n.509+1683_509+1684insG
NM_001024024.1:c.509+1683_509+1684insG	NP_001019195.1:n.509+1683_509+1684insG
NM_001024070.1:c.509+1683_509+1684insG	NP_001019241.1:n.509+1683_509+1684insG
NM_001024071.1:c.509+1683_509+1684insG	NP_001019242.1:n.509+1683_509+1684insG
XM_005267530.1:c.509+1683_509+1684insG	XP_005267587.1:n.509+1683_509+1684insG
XM_011536643.1:c.510-1231_510-1230insG	XP_011534945.1:n.510-1231_510-1230insG
XM_017021218.1:c.215+1683_215+1684insG	XP_016876707.1:n.215+1683_215+1684insG
NM_000161.3:c.509+1683_509+1684insG MANE Select	NP_000152.1:n.509+1683_509+1684insG
NM_001024070.2:c.509+1683_509+1684insG	NP_001019241.1:n.509+1683_509+1684insG
NM_001024071.2:c.509+1683_509+1684insG	NP_001019242.1:n.509+1683_509+1684insG
NM_001024024.2:c.509+1683_509+1684insG	NP_001019195.1:n.509+1683_509+1684insG