LDH info

Canonical Allele Identifier: CA118497

Identifiers and link-outs to other resources

ClinVar Variation Id: 6765
dbSNP Id: rs28989185

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40220641T>C , CM000677.2:g.40220641T>C GRCh38
NC_000015.9:g.40512842T>C , CM000677.1:g.40512842T>C GRCh37
NC_000015.8:g.38300134T>C NCBI36
NG_016338.1:g.64633T>C , LRG_489:g.64633T>C
NG_033169.1:g.8214T>C

Transcript Alleles

HGVS Amino-acid change
NM_001128628.2:c.-201+2974T>C (PAK6) VV NP_001122100.1:p.=
NM_001128629.2:c.-118+2974T>C (PAK6) VV NP_001122101.1:p.=
NM_001211.5:c.3035T>C , LRG_489t1:c.3035T>C (BUB1B) NP_001202.4:p.Leu1012Pro
XR_001751506.1:n.217+18844A>G
NM_001128629.3:c.-118+2974T>C VV NP_001122101.1:p.=
NM_001211.6:c.3035T>C (BUB1B) VV NP_001202.5:p.Leu1012Pro
ENST00000287598.10:c.3035T>C ENSP00000287598.6:p.Leu1012Pro
ENST00000412359.7:c.3077T>C ENSP00000398470.3:p.Leu1026Pro
ENST00000441369.6:c.-201+2974T>C ENSP00000406873.1:p.=
ENST00000453867.6:c.83+2974T>C ENSP00000401153.2:p.=
ENST00000558151.1:n.436T>C
ENST00000558658.5:n.81+2974T>C ENSP00000456785.1:p.=
ENST00000559435.1:n.141T>C