LDH info

Canonical Allele Identifier: CA116921
Gene: PANK2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 4554
ClinVar RCV Id: RCV000004814
dbSNP Id: rs137852965

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3907997A>G , CM000682.2:g.3907997A>G GRCh38
NC_000020.10:g.3888644A>G , CM000682.1:g.3888644A>G GRCh37
NC_000020.9:g.3836644A>G NCBI36
NG_008131.3:g.24159A>G

Transcript Alleles

HGVS Amino-acid change
NM_024960.4:c.-174A>G VV NP_079236.3:p.=
NM_153638.2:c.700A>G VV NP_705902.2:p.Thr234Ala
NM_153640.2:c.-174A>G VV NP_705904.1:p.=
XM_005260835.2:c.85A>G XP_005260892.1:p.Thr29Ala
XM_005260836.3:c.-174A>G XP_005260893.3:p.=
XM_006723631.1:c.-174A>G XP_006723694.1:p.=
XM_011529364.1:c.700A>G XP_011527666.1:p.Thr234Ala
XM_011529365.1:c.700A>G XP_011527667.1:p.Thr234Ala
NM_001324191.1:c.-174A>G VV NP_001311120.1:p.=
NM_001324192.1:c.700A>G VV NP_001311121.1:p.Thr234Ala
NM_001324193.1:c.-466A>G VV NP_001311122.1:p.=
NM_024960.5:c.-174A>G VV NP_079236.3:p.=
NM_153638.3:c.700A>G VV NP_705902.2:p.Thr234Ala
NM_153640.3:c.-174A>G VV NP_705904.1:p.=
NR_136715.1:n.867A>G
XM_005260835.3:c.85A>G XP_005260892.1:p.Thr29Ala
XM_005260836.4:c.-174A>G XP_005260893.3:p.=
XM_011529364.3:c.700A>G XP_011527666.1:p.Thr234Ala
XM_011529365.2:c.700A>G XP_011527667.1:p.Thr234Ala
XM_017028077.2:c.-466A>G XP_016883566.1:p.=
XM_017028078.2:c.-466A>G XP_016883567.1:p.=
XM_017028079.2:c.-466A>G XP_016883568.1:p.=
XM_024452002.1:c.-466A>G XP_024307770.1:p.=
XR_002958533.1:n.861A>G
ENST00000316562.8:c.700A>G ENSP00000313377.4:p.Thr234Ala
ENST00000336066.7:c.331A>G ENSP00000477229.1:p.Thr111Ala
ENST00000471830.1:n.244A>G
ENST00000495692.5:c.-466A>G ENSP00000476745.1:p.=
ENST00000497424.5:c.-174A>G ENSP00000417609.1:p.=
ENST00000610179.5:c.331A>G ENSP00000477429.1:p.Thr111Ala
ENST00000621507.1:c.-174A>G ENSP00000481523.1:p.=