LDH info

Canonical Allele Identifier: CA357850
Gene: NUP93 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 224968
ClinVar RCV Id: RCV000210641
dbSNP Id: rs145146218

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56831918C>T , CM000678.2:g.56831918C>T GRCh38
NC_000016.9:g.56865830C>T , CM000678.1:g.56865830C>T GRCh37
NC_000016.8:g.55423331C>T NCBI36
NG_052904.1:g.106814C>T

Transcript Alleles

HGVS Amino-acid change
NM_001242795.1:c.793C>T VV NP_001229724.1:p.Arg265Trp
NM_001242796.1:c.793C>T VV NP_001229725.1:p.Arg265Trp
NM_014669.4:c.1162C>T VV NP_055484.3:p.Arg388Trp
XM_005256263.2:c.1162C>T XP_005256320.1:p.Arg388Trp
NM_001242796.2:c.793C>T VV NP_001229725.1:p.Arg265Trp
XM_005256263.3:c.1162C>T XP_005256320.1:p.Arg388Trp
NM_014669.5:c.1162C>T VV MANE Preferred NP_055484.3:p.Arg388Trp
NM_001242795.2:c.793C>T VV NP_001229724.1:p.Arg265Trp
ENST00000308159.9:c.1162C>T ENSP00000310668.5:p.Arg388Trp
ENST00000542526.5:c.793C>T ENSP00000440235.1:p.Arg265Trp
ENST00000563437.1:n.404C>T
ENST00000563858.5:c.541C>T ENSP00000455230.1:p.Arg181Trp
ENST00000564887.5:c.793C>T ENSP00000458039.1:p.Arg265Trp
ENST00000569842.5:c.1162C>T ENSP00000458101.1:p.Arg388Trp