Canonical Allele Identifier: CA260531771

Gene: GCH1

Linked Data

• ClinVar Variation Id: 1586276
• ClinVar RCV Id: RCV002098154
• dbSNP Id: rs1001181151
• gnomAD v3: 14-54902514-C-T
• gnomAD v4: 14-54902514-C-T
• MyVariant Identifiers: chr14:g.55369232C>T (hg19) ; chr14:g.54902514C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54902514C>T , CM000676.2:g.54902514C>T	GRCh38
NC_000014.8:g.55369232C>T , CM000676.1:g.55369232C>T	GRCh37
NC_000014.7:g.54438982C>T	NCBI36
NG_008647.1:g.5311G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.150G>A MANE Select	ENSP00000419045.2:p.Ala50=
ENST00000254299.8:n.298G>A
ENST00000395514.5:c.150G>A	ENSP00000378890.1:p.Ala50=
ENST00000491895.6:c.150G>A	ENSP00000419045.2:p.Ala50=
ENST00000536224.2:c.150G>A	ENSP00000445246.2:p.Ala50=
ENST00000543643.6:c.150G>A	ENSP00000444011.2:p.Ala50=
ENST00000622544.4:c.150G>A	ENSP00000477796.1:p.Ala50=
NM_000161.2:c.150G>A	NP_000152.1:p.Ala50=
NM_001024024.1:c.150G>A	NP_001019195.1:p.Ala50=
NM_001024070.1:c.150G>A	NP_001019241.1:p.Ala50=
NM_001024071.1:c.150G>A	NP_001019242.1:p.Ala50=
XM_005267530.1:c.150G>A	XP_005267587.1:p.Ala50=
XM_011536643.1:c.150G>A	XP_011534945.1:p.Ala50=
NM_000161.3:c.150G>A MANE Select	NP_000152.1:p.Ala50=
NM_001024070.2:c.150G>A	NP_001019241.1:p.Ala50=
NM_001024071.2:c.150G>A	NP_001019242.1:p.Ala50=
NM_001024024.2:c.150G>A	NP_001019195.1:p.Ala50=