Canonical Allele Identifier: CA389787396

Gene: GCH1

Linked Data

• ClinVar Variation Id: 2498594
• ClinVar RCV Id: RCV003222803
• MyVariant Identifiers: chr14:g.55312556T>G (hg19) ; chr14:g.54845838T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54845838T>G , CM000676.2:g.54845838T>G	GRCh38
NC_000014.8:g.55312556T>G , CM000676.1:g.55312556T>G	GRCh37
NC_000014.7:g.54382306T>G	NCBI36
NG_008647.1:g.61987A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.556A>C MANE Select	ENSP00000419045.2:p.Thr186Pro
ENST00000254299.8:n.704A>C
ENST00000395514.5:c.556A>C	ENSP00000378890.1:p.Thr186Pro
ENST00000395521.6:n.293-2784A>C
ENST00000491895.6:c.556A>C	ENSP00000419045.2:p.Thr186Pro
ENST00000536224.2:c.556A>C	ENSP00000445246.2:p.Thr186Pro
ENST00000543643.6:c.556A>C	ENSP00000444011.2:p.Thr186Pro
ENST00000622544.4:c.556A>C	ENSP00000477796.1:p.Thr186Pro
NM_000161.2:c.556A>C	NP_000152.1:p.Thr186Pro
NM_001024024.1:c.556A>C	NP_001019195.1:p.Thr186Pro
NM_001024070.1:c.556A>C	NP_001019241.1:p.Thr186Pro
NM_001024071.1:c.556A>C	NP_001019242.1:p.Thr186Pro
XM_005267530.1:c.556A>C	XP_005267587.1:p.Thr186Pro
XM_017021218.1:c.262A>C	XP_016876707.1:p.Thr88Pro
NM_000161.3:c.556A>C MANE Select	NP_000152.1:p.Thr186Pro
NM_001024070.2:c.556A>C	NP_001019241.1:p.Thr186Pro
NM_001024071.2:c.556A>C	NP_001019242.1:p.Thr186Pro
NM_001024024.2:c.556A>C	NP_001019195.1:p.Thr186Pro