LDH info

Canonical Allele Identifier: CA12080473
Gene: PDZD2 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs10054504

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.32000377T>C , CM000667.2:g.32000377T>C GRCh38
NC_000005.9:g.32000483T>C , CM000667.1:g.32000483T>C GRCh37
NC_000005.8:g.32036240T>C NCBI36
NG_033962.1:g.206454T>C
NG_033962.2:g.365968T>C

Transcript Alleles

HGVS Amino-acid change
NM_178140.2:c.1254+106T>C VV NP_835260.2:p.=
XM_005248269.3:c.1254+106T>C XP_005248326.1:p.=
XM_005248270.3:c.1254+106T>C XP_005248327.1:p.=
XM_005248271.1:c.732+106T>C XP_005248328.1:p.=
XM_005248272.3:c.732+106T>C XP_005248329.1:p.=
XM_006714460.2:c.261+106T>C XP_006714523.1:p.=
XM_011513992.1:c.1254+106T>C XP_011512294.1:p.=
XM_011513993.1:c.1254+106T>C XP_011512295.1:p.=
XM_011513994.1:c.1254+106T>C XP_011512296.1:p.=
XM_011513995.1:c.1254+106T>C XP_011512297.1:p.=
XM_011513996.1:c.979-9953T>C XP_011512298.1:p.=
XM_011513997.1:c.1254+106T>C XP_011512299.1:p.=
NM_178140.3:c.1254+106T>C VV NP_835260.2:p.=
XM_005248269.4:c.1254+106T>C XP_005248326.1:p.=
XM_005248272.4:c.732+106T>C XP_005248329.1:p.=
XM_011513992.2:c.1254+106T>C XP_011512294.1:p.=
XM_011513993.2:c.1254+106T>C XP_011512295.1:p.=
XM_011513994.2:c.1254+106T>C XP_011512296.1:p.=
XM_011513995.2:c.1254+106T>C XP_011512297.1:p.=
XM_011513996.2:c.979-9953T>C XP_011512298.1:p.=
XM_017009245.1:c.457-9953T>C XP_016864734.1:p.=
XM_017009246.1:c.261+106T>C XP_016864735.1:p.=
NM_178140.4:c.1254+106T>C VV MANE Preferred NP_835260.2:p.=
ENST00000438447.1:c.1254+106T>C ENSP00000402033.1:p.=
ENST00000502489.5:n.1010+106T>C