Canonical Allele Identifier: CA2138233811

Gene: GCH1

Linked Data

• dbSNP Id: rs2040173997

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54877194_54877195del , CM000676.2:g.54877194_54877195del	GRCh38
NC_000014.8:g.55343912_55343913del , CM000676.1:g.55343912_55343913del	GRCh37
NC_000014.7:g.54413662_54413663del	NCBI36
NG_008647.1:g.30632_30633del

Transcript Alleles

HGVS	Amino-acid change
ENST00000491895.7:c.344-11757_344-11756del MANE Select	ENSP00000419045.2:n.344-11757_344-11756de...
ENST00000254299.8:n.492-11757_492-11756del
ENST00000395514.5:c.344-11757_344-11756del	ENSP00000378890.1:n.344-11757_344-11756de...
ENST00000395521.6:n.127-11757_127-11756del
ENST00000491895.6:c.344-11757_344-11756del	ENSP00000419045.2:n.344-11757_344-11756de...
ENST00000536224.2:c.344-11757_344-11756del	ENSP00000445246.2:n.344-11757_344-11756de...
ENST00000543643.6:c.344-11757_344-11756del	ENSP00000444011.2:n.344-11757_344-11756de...
ENST00000622544.4:c.344-11757_344-11756del	ENSP00000477796.1:n.344-11757_344-11756de...
NM_000161.2:c.344-11757_344-11756del	NP_000152.1:n.344-11757_344-11756del
NM_001024024.1:c.344-11757_344-11756del	NP_001019195.1:n.344-11757_344-11756del
NM_001024070.1:c.344-11757_344-11756del	NP_001019241.1:n.344-11757_344-11756del
NM_001024071.1:c.344-11757_344-11756del	NP_001019242.1:n.344-11757_344-11756del
XM_005267530.1:c.344-11757_344-11756del	XP_005267587.1:n.344-11757_344-11756del
XM_011536643.1:c.344-11757_344-11756del	XP_011534945.1:n.344-11757_344-11756del
XM_017021218.1:c.49+4349_49+4350del	XP_016876707.1:n.49+4349_49+4350del
NM_000161.3:c.344-11757_344-11756del MANE Select	NP_000152.1:n.344-11757_344-11756del
NM_001024070.2:c.344-11757_344-11756del	NP_001019241.1:n.344-11757_344-11756del
NM_001024071.2:c.344-11757_344-11756del	NP_001019242.1:n.344-11757_344-11756del
NM_001024024.2:c.344-11757_344-11756del	NP_001019195.1:n.344-11757_344-11756del