Canonical Allele Identifier: CA10644309

Gene: GCH1

Linked Data

• ClinVar Variation Id: 313363
• ClinVar RCV Id: RCV000311324 ; RCV000407271
• dbSNP Id: rs886050543
• gnomAD v3: 14-54842544-T-C
• gnomAD v4: 14-54842544-T-C
• MyVariant Identifiers: chr14:g.55309262T>C (hg19) ; chr14:g.54842544T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54842544T>C , CM000676.2:g.54842544T>C	GRCh38
NC_000014.8:g.55309262T>C , CM000676.1:g.55309262T>C	GRCh37
NC_000014.7:g.54379012T>C	NCBI36
NG_008647.1:g.65281A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.*1473A>G MANE Select	ENSP00000419045.2:n.*1473A>G
ENST00000254299.8:n.2374A>G
ENST00000395514.5:c.*527A>G	ENSP00000378890.1:n.*527A>G
ENST00000491895.6:c.*1473A>G	ENSP00000419045.2:n.*1473A>G
ENST00000536224.2:c.*495A>G	ENSP00000445246.2:n.*495A>G
ENST00000543643.6:c.*523A>G	ENSP00000444011.2:n.*523A>G
ENST00000622544.4:c.*1473A>G	ENSP00000477796.1:n.*1473A>G
NM_000161.2:c.*1473A>G	NP_000152.1:n.*1473A>G
NM_001024024.1:c.*527A>G	NP_001019195.1:n.*527A>G
NM_001024070.1:c.*523A>G	NP_001019241.1:n.*523A>G
NM_001024071.1:c.*495A>G	NP_001019242.1:n.*495A>G
XM_005267530.1:c.*1250A>G	XP_005267587.1:n.*1250A>G
XM_017021218.1:c.*1473A>G	XP_016876707.1:n.*1473A>G
NM_000161.3:c.*1473A>G MANE Select	NP_000152.1:n.*1473A>G
NM_001024070.2:c.*523A>G	NP_001019241.1:n.*523A>G
NM_001024071.2:c.*495A>G	NP_001019242.1:n.*495A>G
NM_001024024.2:c.*527A>G	NP_001019195.1:n.*527A>G