Canonical Allele Identifier: CA7193669
Gene: GCH1 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.54902489G>C
GRCh37 chr14:g.55369207G>C
Revel Score:
ENST00000395514 0.634
ENST00000543643 0.634
ENST00000491895 (MANE Select) 0.634
ENST00000536224 0.634
ENST00000395524 0.634
gnomAD v2:
14:55369207 G / C
gnomAD v4:
chr14-54902489-G-C
Joint Max Group AF 0.00000742 (EAS)
Exomes Max Group AF 0.00000838 (EAS)
ClinVar Allele:
2130654
ClinVar RCV:
RCV002949635
ClinVar Variation:
2072725
dbSNP:
753312849
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.54902489G>C , CM000676.2:g.54902489G>C GRCh38
NC_000014.8:g.55369207G>C , CM000676.1:g.55369207G>C GRCh37
NC_000014.7:g.54438957G>C NCBI36
NG_008647.1:g.5336C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000491895.7:c.175C>G MANE Select ENSP00000419045.2:p.Arg59Gly
ENST00000254299.8:n.323C>G
ENST00000395514.5:c.175C>G ENSP00000378890.1:p.Arg59Gly
ENST00000491895.6:c.175C>G ENSP00000419045.2:p.Arg59Gly
ENST00000536224.2:c.175C>G ENSP00000445246.2:p.Arg59Gly
ENST00000543643.6:c.175C>G ENSP00000444011.2:p.Arg59Gly
ENST00000622544.4:c.175C>G ENSP00000477796.1:p.Arg59Gly
NM_000161.2:c.175C>G NP_000152.1:p.Arg59Gly
NM_001024024.1:c.175C>G NP_001019195.1:p.Arg59Gly
NM_001024070.1:c.175C>G NP_001019241.1:p.Arg59Gly
NM_001024071.1:c.175C>G NP_001019242.1:p.Arg59Gly
XM_005267530.1:c.175C>G XP_005267587.1:p.Arg59Gly
XM_011536643.1:c.175C>G XP_011534945.1:p.Arg59Gly
NM_000161.3:c.175C>G MANE Select NP_000152.1:p.Arg59Gly
NM_001024070.2:c.175C>G NP_001019241.1:p.Arg59Gly
NM_001024071.2:c.175C>G NP_001019242.1:p.Arg59Gly
NM_001024024.2:c.175C>G NP_001019195.1:p.Arg59Gly
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