LDH info

Canonical Allele Identifier: CA340497
Gene: SLC25A13 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 6003
dbSNP Id: rs80338725

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.96121929_96121951dup , CM000669.2:g.96121929_96121951dup GRCh38
NC_000007.13:g.95751241_95751263dup , CM000669.1:g.95751241_95751263dup GRCh37
NC_000007.12:g.95589177_95589199dup NCBI36
NG_012247.1:g.205197_205219dup
NG_012247.2:g.205197_205219dup

Transcript Alleles

HGVS Amino-acid change
NM_001160210.1:c.1641_1663dup VV NP_001153682.1:p.Ala555GlyfsTer17
NM_014251.2:c.1638_1660dup VV NP_055066.1:p.Ala554GlyfsTer17
NR_027662.1:n.1713_1735dup
XM_006715831.2:c.1671_1693dup XP_006715894.1:p.Ala565GlyfsTer17
XM_011515728.1:c.786_808dup XP_011514030.1:p.Ala270GlyfsTer17
XM_006715831.4:c.1671_1693dup XP_006715894.1:p.Ala565GlyfsTer17
XM_017011663.1:c.1629_1651dup XP_016867152.1:p.Ala551GlyfsTer17
XM_017011664.2:c.786_808dup XP_016867153.1:p.Ala270GlyfsTer17
XM_017011665.1:c.786_808dup XP_016867154.1:p.Ala270GlyfsTer17
XR_001744525.2:n.1884_1906dup
XR_002956405.1:n.2442_2464dup
ENST00000265631.9:c.1638_1660dup ENSP00000265631.5:p.Ala554GlyfsTer17
ENST00000416240.6:c.1641_1663dup ENSP00000400101.2:p.Ala555GlyfsTer17
ENST00000494085.1:n.48_70dup