LDH info

Canonical Allele Identifier: CA16606864
Gene: GCH1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 381665
ClinVar RCV Id: RCV000440945
dbSNP Id: rs988395114

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.54845787C>T , CM000676.2:g.54845787C>T GRCh38
NC_000014.8:g.55312505C>T , CM000676.1:g.55312505C>T GRCh37
NC_000014.7:g.54382255C>T NCBI36
NG_008647.1:g.62038G>A

Transcript Alleles

HGVS Amino-acid change
NM_000161.2:c.607G>A VV NP_000152.1:p.Gly203Arg
NM_001024024.1:c.607G>A VV NP_001019195.1:p.Gly203Arg
NM_001024070.1:c.607G>A VV NP_001019241.1:p.Gly203Arg
NM_001024071.1:c.607G>A VV NP_001019242.1:p.Gly203Arg
XM_005267530.1:c.607G>A XP_005267587.1:p.Gly203Arg
XM_017021218.1:c.313G>A XP_016876707.1:p.Gly105Arg
NM_000161.3:c.607G>A VV MANE Preferred NP_000152.1:p.Gly203Arg
ENST00000254299.8:n.755G>A
ENST00000395514.5:c.607G>A ENSP00000378890.1:p.Gly203Arg
ENST00000395521.6:n.293-2733G>A
ENST00000491895.6:c.607G>A ENSP00000419045.2:p.Gly203Arg
ENST00000536224.2:c.607G>A ENSP00000445246.2:p.Gly203Arg
ENST00000543643.6:c.607G>A ENSP00000444011.2:p.Gly203Arg
ENST00000622544.4:c.607G>A ENSP00000477796.1:p.Gly203Arg