LDH info

Canonical Allele Identifier: CA254889
Gene: XK HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 9768
ClinVar RCV Id: RCV000010422
dbSNP Id: rs28933690

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37728007T>C , CM000685.2:g.37728007T>C GRCh38
NC_000023.10:g.37587260T>C , CM000685.1:g.37587260T>C GRCh37
NC_000023.9:g.37472199T>C NCBI36
NG_007473.1:g.47148T>C
NG_007473.3:g.47128T>C

Transcript Alleles

HGVS Amino-acid change
NM_021083.2:c.880T>C VV NP_066569.1:p.Cys294Arg
NM_021083.4:c.880T>C VV MANE Preferred NP_066569.1:p.Cys294Arg
ENST00000378616.3:c.880T>C ENSP00000367879.3:p.Cys294Arg
ENST00000465127.1:c.171+302007T>C ENSP00000417050.1:p.=