LDH info

Canonical Allele Identifier: CA117115
Gene: HSD17B3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 4879
ClinVar RCV Id: RCV000005155
dbSNP Id: rs119481078

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.96298451C>T , CM000671.2:g.96298451C>T GRCh38
NC_000009.11:g.99060733C>T , CM000671.1:g.99060733C>T GRCh37
NC_000009.10:g.98100554C>T NCBI36
NG_008157.1:g.8702G>A

Transcript Alleles

HGVS Amino-acid change
NM_000197.1:c.166G>A VV NP_000188.1:p.Ala56Thr
XM_006717095.2:c.166G>A XP_006717158.1:p.Ala56Thr
XM_011518618.1:c.166G>A XP_011516920.1:p.Ala56Thr
XM_011518619.1:c.166G>A XP_011516921.1:p.Ala56Thr
XM_011518620.1:c.166G>A XP_011516922.1:p.Ala56Thr
XM_011518621.1:c.166G>A XP_011516923.1:p.Ala56Thr
NM_000197.2:c.166G>A VV MANE Preferred NP_000188.1:p.Ala56Thr
XM_011518618.2:c.166G>A XP_011516920.1:p.Ala56Thr
XM_011518619.2:c.166G>A XP_011516921.1:p.Ala56Thr
XM_017014671.1:c.166G>A XP_016870160.1:p.Ala56Thr
XM_017014672.1:c.166G>A XP_016870161.1:p.Ala56Thr
XM_017014673.2:c.166G>A XP_016870162.1:p.Ala56Thr
XM_017014674.1:c.166G>A XP_016870163.1:p.Ala56Thr
XM_017014675.1:c.80G>A XP_016870164.1:p.Ser27Asn
XM_017014677.1:c.-771G>A XP_016870166.1:p.=
XM_024447529.1:c.80G>A XP_024303297.1:p.Ser27Asn
XR_002956778.1:n.2600G>A
ENST00000375262.3:c.166G>A ENSP00000364411.2:p.Ala56Thr
ENST00000375263.7:c.166G>A ENSP00000364412.3:p.Ala56Thr