Canonical Allele Identifier: CA120279

Gene: GCH1

Linked Data

• ClinVar Variation Id: 9282
• ClinVar RCV Id: RCV000634833 ; RCV001659690 ; RCV002508113
• dbSNP Id: rs104894435
• MyVariant Identifiers: chr14:g.55369059C>T (hg19) ; chr14:g.54902341C>T (hg38)
• PubMed: PMID:9667588

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54902341C>T , CM000676.2:g.54902341C>T	GRCh38
NC_000014.8:g.55369059C>T , CM000676.1:g.55369059C>T	GRCh37
NC_000014.7:g.54438809C>T	NCBI36
NG_008647.1:g.5484G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.323G>A MANE Select	ENSP00000419045.2:p.Gly108Asp
ENST00000254299.8:n.471G>A
ENST00000395514.5:c.323G>A	ENSP00000378890.1:p.Gly108Asp
ENST00000395521.6:n.106G>A
ENST00000491895.6:c.323G>A	ENSP00000419045.2:p.Gly108Asp
ENST00000536224.2:c.323G>A	ENSP00000445246.2:p.Gly108Asp
ENST00000543643.6:c.323G>A	ENSP00000444011.2:p.Gly108Asp
ENST00000622544.4:c.323G>A	ENSP00000477796.1:p.Gly108Asp
NM_000161.2:c.323G>A	NP_000152.1:p.Gly108Asp
NM_001024024.1:c.323G>A	NP_001019195.1:p.Gly108Asp
NM_001024070.1:c.323G>A	NP_001019241.1:p.Gly108Asp
NM_001024071.1:c.323G>A	NP_001019242.1:p.Gly108Asp
XM_005267530.1:c.323G>A	XP_005267587.1:p.Gly108Asp
XM_011536643.1:c.323G>A	XP_011534945.1:p.Gly108Asp
NM_000161.3:c.323G>A MANE Select	NP_000152.1:p.Gly108Asp
NM_001024070.2:c.323G>A	NP_001019241.1:p.Gly108Asp
NM_001024071.2:c.323G>A	NP_001019242.1:p.Gly108Asp
NM_001024024.2:c.323G>A	NP_001019195.1:p.Gly108Asp