LDH info

Canonical Allele Identifier: CA254719
Gene: GCH1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 9272
ClinVar RCV Id: RCV000009854
dbSNP Id: rs104894437

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.54865379T>A , CM000676.2:g.54865379T>A GRCh38
NC_000014.8:g.55332097T>A , CM000676.1:g.55332097T>A GRCh37
NC_000014.7:g.54401847T>A NCBI36
NG_008647.1:g.42446A>T

Transcript Alleles

HGVS Amino-acid change
NM_000161.2:c.401A>T VV NP_000152.1:p.Asp134Val
NM_001024024.1:c.401A>T VV NP_001019195.1:p.Asp134Val
NM_001024070.1:c.401A>T VV NP_001019241.1:p.Asp134Val
NM_001024071.1:c.401A>T VV NP_001019242.1:p.Asp134Val
XM_005267530.1:c.401A>T XP_005267587.1:p.Asp134Val
XM_011536643.1:c.401A>T XP_011534945.1:p.Asp134Val
XM_017021218.1:c.107A>T XP_016876707.1:p.Asp36Val
NM_000161.3:c.401A>T VV MANE Preferred NP_000152.1:p.Asp134Val
NM_001024070.2:c.401A>T VV NP_001019241.1:p.Asp134Val
NM_001024071.2:c.401A>T VV NP_001019242.1:p.Asp134Val
ENST00000254299.8:n.549A>T
ENST00000395514.5:c.401A>T ENSP00000378890.1:p.Asp134Val
ENST00000395521.6:n.184A>T
ENST00000491895.6:c.401A>T ENSP00000419045.2:p.Asp134Val
ENST00000536224.2:c.401A>T ENSP00000445246.2:p.Asp134Val
ENST00000543643.6:c.401A>T ENSP00000444011.2:p.Asp134Val
ENST00000622544.4:c.401A>T ENSP00000477796.1:p.Asp134Val