LDH info

Canonical Allele Identifier: CA260565257
Gene: GCH1 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs17128050

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.54877161T>C , CM000676.2:g.54877161T>C GRCh38
NC_000014.8:g.55343879T>C , CM000676.1:g.55343879T>C GRCh37
NC_000014.7:g.54413629T>C NCBI36
NG_008647.1:g.30664A>G

Transcript Alleles

HGVS Amino-acid change
NM_000161.2:c.344-11725A>G VV NP_000152.1:p.=
NM_001024024.1:c.344-11725A>G VV NP_001019195.1:p.=
NM_001024070.1:c.344-11725A>G VV NP_001019241.1:p.=
NM_001024071.1:c.344-11725A>G VV NP_001019242.1:p.=
XM_005267530.1:c.344-11725A>G XP_005267587.1:p.=
XM_011536643.1:c.344-11725A>G XP_011534945.1:p.=
XM_017021218.1:c.49+4381A>G XP_016876707.1:p.=
NM_000161.3:c.344-11725A>G VV MANE Preferred NP_000152.1:p.=
NM_001024070.2:c.344-11725A>G VV NP_001019241.1:p.=
NM_001024071.2:c.344-11725A>G VV NP_001019242.1:p.=
ENST00000254299.8:n.492-11725A>G
ENST00000395514.5:c.344-11725A>G ENSP00000378890.1:p.=
ENST00000395521.6:n.127-11725A>G
ENST00000491895.6:c.344-11725A>G ENSP00000419045.2:p.=
ENST00000536224.2:c.344-11725A>G ENSP00000445246.2:p.=
ENST00000543643.6:c.344-11725A>G ENSP00000444011.2:p.=
ENST00000622544.4:c.344-11725A>G ENSP00000477796.1:p.=