Canonical Allele Identifier: CA13992352

Gene: GCH1

Linked Data

• ClinVar Variation Id: 1169986
• ClinVar RCV Id: RCV001521892
• dbSNP Id: rs11158026
• gnomAD v2: 14-55348869-C-T
• gnomAD v3: 14-54882151-C-T
• gnomAD v4: 14-54882151-C-T
• MyVariant Identifiers: chr14:g.55348869C>T (hg19) ; chr14:g.54882151C>T (hg38)
• Allelic Epigenome: Alellic Epigenome (raw data)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54882151C>T , CM000676.2:g.54882151C>T	GRCh38
NC_000014.8:g.55348869C>T , CM000676.1:g.55348869C>T	GRCh37
NC_000014.7:g.54418619C>T	NCBI36
NG_008647.1:g.25674G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000491895.7:c.344-16715G>A MANE Select	ENSP00000419045.2:n.344-16715G>A
ENST00000254299.8:n.492-16715G>A
ENST00000395514.5:c.344-16715G>A	ENSP00000378890.1:n.344-16715G>A
ENST00000395521.6:n.127-16715G>A
ENST00000491895.6:c.344-16715G>A	ENSP00000419045.2:n.344-16715G>A
ENST00000536224.2:c.344-16715G>A	ENSP00000445246.2:n.344-16715G>A
ENST00000543643.6:c.344-16715G>A	ENSP00000444011.2:n.344-16715G>A
ENST00000622544.4:c.344-16715G>A	ENSP00000477796.1:n.344-16715G>A
NM_000161.2:c.344-16715G>A	NP_000152.1:n.344-16715G>A
NM_001024024.1:c.344-16715G>A	NP_001019195.1:n.344-16715G>A
NM_001024070.1:c.344-16715G>A	NP_001019241.1:n.344-16715G>A
NM_001024071.1:c.344-16715G>A	NP_001019242.1:n.344-16715G>A
XM_005267530.1:c.344-16715G>A	XP_005267587.1:n.344-16715G>A
XM_011536643.1:c.344-16715G>A	XP_011534945.1:n.344-16715G>A
XM_017021218.1:c.-561G>A	XP_016876707.1:n.-561G>A
NM_000161.3:c.344-16715G>A MANE Select	NP_000152.1:n.344-16715G>A
NM_001024070.2:c.344-16715G>A	NP_001019241.1:n.344-16715G>A
NM_001024071.2:c.344-16715G>A	NP_001019242.1:n.344-16715G>A
NM_001024024.2:c.344-16715G>A	NP_001019195.1:n.344-16715G>A