LDH info

Canonical Allele Identifier: CA253675
Gene: SLC25A13 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 6006
dbSNP Id: rs80338726

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.96121697dup , CM000669.2:g.96121697dup GRCh38
NC_000007.13:g.95751009dup , CM000669.1:g.95751009dup GRCh37
NC_000007.12:g.95588945dup NCBI36
NG_012247.1:g.205451dup
NG_012247.2:g.205451dup

Transcript Alleles

HGVS Amino-acid change
NM_001160210.1:c.1802dup VV NP_001153682.1:p.Tyr601Ter
NM_014251.2:c.1799dup VV NP_055066.1:p.Tyr600Ter
NR_027662.1:n.1874dup
XM_006715831.2:c.1832dup XP_006715894.1:p.Tyr611Ter
XM_011515728.1:c.947dup XP_011514030.1:p.Tyr316Ter
XM_006715831.4:c.1832dup XP_006715894.1:p.Tyr611Ter
XM_017011663.1:c.1790dup XP_016867152.1:p.Tyr597Ter
XM_017011664.2:c.947dup XP_016867153.1:p.Tyr316Ter
XM_017011665.1:c.947dup XP_016867154.1:p.Tyr316Ter
XR_001744525.2:n.2045dup
XR_002956405.1:n.2603dup
ENST00000265631.9:c.1799dup ENSP00000265631.5:p.Tyr600Ter
ENST00000416240.6:c.1802dup ENSP00000400101.2:p.Tyr601Ter
ENST00000494085.1:n.302dup