Canonical Allele Identifier: CA120281

Gene: GCH1

Linked Data

• ClinVar Variation Id: 9286
• ClinVar RCV Id: RCV000518763 ; RCV002508115
• dbSNP Id: rs104894442
• gnomAD v2: 14-55310741-C-G
• gnomAD v4: 14-54844023-C-G
• MyVariant Identifiers: chr14:g.55310741C>G (hg19) ; chr14:g.54844023C>G (hg38)
• PubMed: PMID:10987649

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54844023C>G , CM000676.2:g.54844023C>G	GRCh38
NC_000014.8:g.55310741C>G , CM000676.1:g.55310741C>G	GRCh37
NC_000014.7:g.54380491C>G	NCBI36
NG_008647.1:g.63802G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.747G>C MANE Select	ENSP00000419045.2:p.Arg249Ser
ENST00000254299.8:n.895G>C
ENST00000395514.5:c.747G>C	ENSP00000378890.1:p.Arg249Ser
ENST00000395521.6:n.293-969G>C
ENST00000491895.6:c.747G>C	ENSP00000419045.2:p.Arg249Ser
ENST00000536224.2:c.627-969G>C	ENSP00000445246.2:n.627-969G>C
ENST00000543643.6:c.627-154G>C	ENSP00000444011.2:n.627-154G>C
ENST00000622544.4:c.747G>C	ENSP00000477796.1:p.Arg249Ser
NM_000161.2:c.747G>C	NP_000152.1:p.Arg249Ser
NM_001024024.1:c.747G>C	NP_001019195.1:p.Arg249Ser
NM_001024070.1:c.627-154G>C	NP_001019241.1:n.627-154G>C
NM_001024071.1:c.627-969G>C	NP_001019242.1:n.627-969G>C
XM_005267530.1:c.627-154G>C	XP_005267587.1:n.627-154G>C
XM_017021218.1:c.453G>C	XP_016876707.1:p.Arg151Ser
NM_000161.3:c.747G>C MANE Select	NP_000152.1:p.Arg249Ser
NM_001024070.2:c.627-154G>C	NP_001019241.1:n.627-154G>C
NM_001024071.2:c.627-969G>C	NP_001019242.1:n.627-969G>C
NM_001024024.2:c.747G>C	NP_001019195.1:p.Arg249Ser