Canonical Allele Identifier: CA10640305

Gene: GCH1

Linked Data

• ClinVar Variation Id: 313379
• ClinVar RCV Id: RCV000293009 ; RCV000329128
• dbSNP Id: rs138578359
• gnomAD v3: 14-54843290-T-C
• gnomAD v4: 14-54843290-T-C
• MyVariant Identifiers: chr14:g.55310008T>C (hg19) ; chr14:g.54843290T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54843290T>C , CM000676.2:g.54843290T>C	GRCh38
NC_000014.8:g.55310008T>C , CM000676.1:g.55310008T>C	GRCh37
NC_000014.7:g.54379758T>C	NCBI36
NG_008647.1:g.64535A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.*727A>G MANE Select	ENSP00000419045.2:n.*727A>G
ENST00000254299.8:n.1628A>G
ENST00000395514.5:c.*17-236A>G	ENSP00000378890.1:n.*17-236A>G
ENST00000395521.6:n.293-236A>G
ENST00000491895.6:c.*727A>G	ENSP00000419045.2:n.*727A>G
ENST00000536224.2:c.627-236A>G	ENSP00000445246.2:n.627-236A>G
ENST00000543643.6:c.*13-236A>G	ENSP00000444011.2:n.*13-236A>G
ENST00000622544.4:c.*727A>G	ENSP00000477796.1:n.*727A>G
NM_000161.2:c.*727A>G	NP_000152.1:n.*727A>G
NM_001024024.1:c.*17-236A>G	NP_001019195.1:n.*17-236A>G
NM_001024070.1:c.*13-236A>G	NP_001019241.1:n.*13-236A>G
NM_001024071.1:c.627-236A>G	NP_001019242.1:n.627-236A>G
XM_005267530.1:c.*504A>G	XP_005267587.1:n.*504A>G
XM_017021218.1:c.*727A>G	XP_016876707.1:n.*727A>G
NM_000161.3:c.*727A>G MANE Select	NP_000152.1:n.*727A>G
NM_001024070.2:c.*13-236A>G	NP_001019241.1:n.*13-236A>G
NM_001024071.2:c.627-236A>G	NP_001019242.1:n.627-236A>G
NM_001024024.2:c.*17-236A>G	NP_001019195.1:n.*17-236A>G