Canonical Allele Identifier: CA486482314

Gene: GCH1

Linked Data

• ClinVar Variation Id: 1596433
• ClinVar RCV Id: RCV002113336
• dbSNP Id: rs752447862
• gnomAD v2: 14-55312520-G-T
• gnomAD v3: 14-54845802-G-T
• gnomAD v4: 14-54845802-G-T
• MyVariant Identifiers: chr14:g.55312520G>T (hg19) ; chr14:g.54845802G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54845802G>T , CM000676.2:g.54845802G>T	GRCh38
NC_000014.8:g.55312520G>T , CM000676.1:g.55312520G>T	GRCh37
NC_000014.7:g.54382270G>T	NCBI36
NG_008647.1:g.62023C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000491895.7:c.592C>A MANE Select	ENSP00000419045.2:p.Arg198=
ENST00000254299.8:n.740C>A
ENST00000395514.5:c.592C>A	ENSP00000378890.1:p.Arg198=
ENST00000395521.6:n.293-2748C>A
ENST00000491895.6:c.592C>A	ENSP00000419045.2:p.Arg198=
ENST00000536224.2:c.592C>A	ENSP00000445246.2:p.Arg198=
ENST00000543643.6:c.592C>A	ENSP00000444011.2:p.Arg198=
ENST00000622544.4:c.592C>A	ENSP00000477796.1:p.Arg198=
NM_000161.2:c.592C>A	NP_000152.1:p.Arg198=
NM_001024024.1:c.592C>A	NP_001019195.1:p.Arg198=
NM_001024070.1:c.592C>A	NP_001019241.1:p.Arg198=
NM_001024071.1:c.592C>A	NP_001019242.1:p.Arg198=
XM_005267530.1:c.592C>A	XP_005267587.1:p.Arg198=
XM_017021218.1:c.298C>A	XP_016876707.1:p.Arg100=
NM_000161.3:c.592C>A MANE Select	NP_000152.1:p.Arg198=
NM_001024070.2:c.592C>A	NP_001019241.1:p.Arg198=
NM_001024071.2:c.592C>A	NP_001019242.1:p.Arg198=
NM_001024024.2:c.592C>A	NP_001019195.1:p.Arg198=