Canonical Allele Identifier: CA963329185

Gene: GCH1

Linked Data

• dbSNP Id: rs2039604670
• gnomAD v3: 14-54844147-CA-C
• gnomAD v4: 14-54844147-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54844151del , CM000676.2:g.54844151del	GRCh38
NC_000014.8:g.55310869del , CM000676.1:g.55310869del	GRCh37
NC_000014.7:g.54380619del	NCBI36
NG_008647.1:g.63677del

Transcript Alleles

HGVS	Amino-acid change
ENST00000491895.7:c.627-5del MANE Select	ENSP00000419045.2:n.627-5del
ENST00000254299.8:n.775-5del
ENST00000395514.5:c.627-5del	ENSP00000378890.1:n.627-5del
ENST00000395521.6:n.293-1094del
ENST00000491895.6:c.627-5del	ENSP00000419045.2:n.627-5del
ENST00000536224.2:c.627-1094del	ENSP00000445246.2:n.627-1094del
ENST00000543643.6:c.627-279del	ENSP00000444011.2:n.627-279del
ENST00000622544.4:c.627-5del	ENSP00000477796.1:n.627-5del
NM_000161.2:c.627-5del	NP_000152.1:n.627-5del
NM_001024024.1:c.627-5del	NP_001019195.1:n.627-5del
NM_001024070.1:c.627-279del	NP_001019241.1:n.627-279del
NM_001024071.1:c.627-1094del	NP_001019242.1:n.627-1094del
XM_005267530.1:c.627-279del	XP_005267587.1:n.627-279del
XM_017021218.1:c.333-5del	XP_016876707.1:n.333-5del
NM_000161.3:c.627-5del MANE Select	NP_000152.1:n.627-5del
NM_001024070.2:c.627-279del	NP_001019241.1:n.627-279del
NM_001024071.2:c.627-1094del	NP_001019242.1:n.627-1094del
NM_001024024.2:c.627-5del	NP_001019195.1:n.627-5del