LDH info

Canonical Allele Identifier: CA260531752
Gene: GCH1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 700219
ClinVar RCV Id: RCV000868314
dbSNP Id: rs961694546

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.54902439G>A , CM000676.2:g.54902439G>A GRCh38
NC_000014.8:g.55369157G>A , CM000676.1:g.55369157G>A GRCh37
NC_000014.7:g.54438907G>A NCBI36
NG_008647.1:g.5386C>T

Transcript Alleles

HGVS Amino-acid change
NM_000161.2:c.225C>T VV NP_000152.1:p.Tyr75=
NM_001024024.1:c.225C>T VV NP_001019195.1:p.Tyr75=
NM_001024070.1:c.225C>T VV NP_001019241.1:p.Tyr75=
NM_001024071.1:c.225C>T VV NP_001019242.1:p.Tyr75=
XM_005267530.1:c.225C>T XP_005267587.1:p.Tyr75=
XM_011536643.1:c.225C>T XP_011534945.1:p.Tyr75=
NM_000161.3:c.225C>T VV MANE Preferred NP_000152.1:p.Tyr75=
NM_001024070.2:c.225C>T VV NP_001019241.1:p.Tyr75=
NM_001024071.2:c.225C>T VV NP_001019242.1:p.Tyr75=
ENST00000254299.8:n.373C>T
ENST00000395514.5:c.225C>T ENSP00000378890.1:p.Tyr75=
ENST00000395521.6:n.8C>T
ENST00000491895.6:c.225C>T ENSP00000419045.2:p.Tyr75=
ENST00000536224.2:c.225C>T ENSP00000445246.2:p.Tyr75=
ENST00000543643.6:c.225C>T ENSP00000444011.2:p.Tyr75=
ENST00000622544.4:c.225C>T ENSP00000477796.1:p.Tyr75=