Canonical Allele Identifier: CA2573149962

Gene: GCH1

Linked Data

• ClinVar Variation Id: 1419261
• ClinVar RCV Id: RCV001954666
• dbSNP Id: rs2140127278

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54902452del , CM000676.2:g.54902452del	GRCh38
NC_000014.8:g.55369170del , CM000676.1:g.55369170del	GRCh37
NC_000014.7:g.54438920del	NCBI36
NG_008647.1:g.5373del

Transcript Alleles

HGVS	Amino-acid change
ENST00000491895.7:c.212del MANE Select	ENSP00000419045.2:p.Leu71ArgfsTer9
ENST00000254299.8:n.360del
ENST00000395514.5:c.212del	ENSP00000378890.1:p.Leu71ArgfsTer9
ENST00000491895.6:c.212del	ENSP00000419045.2:p.Leu71ArgfsTer9
ENST00000536224.2:c.212del	ENSP00000445246.2:p.Leu71ArgfsTer9
ENST00000543643.6:c.212del	ENSP00000444011.2:p.Leu71ArgfsTer9
ENST00000622544.4:c.212del	ENSP00000477796.1:p.Leu71ArgfsTer9
NM_000161.2:c.212del	NP_000152.1:p.Leu71ArgfsTer9
NM_001024024.1:c.212del	NP_001019195.1:p.Leu71ArgfsTer9
NM_001024070.1:c.212del	NP_001019241.1:p.Leu71ArgfsTer9
NM_001024071.1:c.212del	NP_001019242.1:p.Leu71ArgfsTer9
XM_005267530.1:c.212del	XP_005267587.1:p.Leu71ArgfsTer9
XM_011536643.1:c.212del	XP_011534945.1:p.Leu71ArgfsTer9
NM_000161.3:c.212del MANE Select	NP_000152.1:p.Leu71ArgfsTer9
NM_001024070.2:c.212del	NP_001019241.1:p.Leu71ArgfsTer9
NM_001024071.2:c.212del	NP_001019242.1:p.Leu71ArgfsTer9
NM_001024024.2:c.212del	NP_001019195.1:p.Leu71ArgfsTer9