LDH info

Canonical Allele Identifier: CA16041330
Gene: GRHPR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371081
ClinVar RCV Id: RCV000409258
dbSNP Id: rs1057516990

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37429753del , CM000671.2:g.37429753del GRCh38
NC_000009.11:g.37429750del , CM000671.1:g.37429750del GRCh37
NC_000009.10:g.37419750del NCBI36
NG_008135.1:g.12044del

Transcript Alleles

HGVS Amino-acid change
NM_012203.1:c.515del VV NP_036335.1:p.Leu172ArgfsTer?
XM_005251631.1:c.194del XP_005251688.1:p.Leu65ArgfsTer?
XM_011518073.1:c.113del XP_011516375.1:p.Leu38ArgfsTer?
XR_929374.1:n.960del
XM_017015320.2:c.515del XP_016870809.1:p.Leu172ArgfsTer?
XM_017015321.2:c.515del XP_016870810.1:p.Leu172ArgfsTer?
XM_017015323.2:c.113del XP_016870812.1:p.Leu38ArgfsTer?
XM_024447716.1:c.788del XP_024303484.1:p.Leu263ArgfsTer?
XM_024447717.1:c.788del XP_024303485.1:p.Leu263ArgfsTer?
XR_002956828.1:n.803del
XR_002956829.1:n.803del
XR_002956830.1:n.574del
XR_002956831.1:n.249del
XR_002956832.1:n.934del
NM_012203.2:c.515del VV MANE Preferred NP_036335.1:p.Leu172ArgfsTer?
ENST00000318158.10:c.515del ENSP00000313432.6:p.Leu172ArgfsTer?
ENST00000377824.8:n.552del
ENST00000460882.5:n.542del
ENST00000480596.5:n.1216del
ENST00000491488.5:n.220del
ENST00000494290.1:c.86del ENSP00000432021.1:p.Leu29ArgfsTer?
ENST00000497693.1:n.2048del
ENST00000607784.1:c.515del ENSP00000475569.1:p.Leu172ArgfsTer?