LDH info

Canonical Allele Identifier: CA5174286
Gene: IKBKAP HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 259113
dbSNP Id: rs1538660

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.108879545G>A , CM000671.2:g.108879545G>A GRCh38
NC_000009.11:g.111641825G>A , CM000671.1:g.111641825G>A GRCh37
NC_000009.10:g.110681646G>A NCBI36
NG_008788.1:g.59784C>T , LRG_251:g.59784C>T

Transcript Alleles

HGVS Amino-acid change
NM_003640.3:c.3473C>T , LRG_251t1:c.3473C>T NP_003631.2:p.Pro1158Leu
XM_005252285.2:c.3131C>T XP_005252342.1:p.Pro1044Leu
XM_011519136.1:c.3515C>T XP_011517438.1:p.Pro1172Leu
XM_011519137.1:c.3173C>T XP_011517439.1:p.Pro1058Leu
NM_001318360.1:c.3131C>T VV NP_001305289.1:p.Pro1044Leu
NM_001330749.1:c.2426C>T VV NP_001317678.1:p.Pro809Leu
NM_003640.4:c.3473C>T VV NP_003631.2:p.Pro1158Leu
XM_011519136.2:c.3515C>T XP_011517438.1:p.Pro1172Leu
XR_929859.3:n.3862C>T
NM_003640.5:c.3473C>T VV MANE Preferred NP_003631.2:p.Pro1158Leu
NM_001318360.2:c.3131C>T VV NP_001305289.1:p.Pro1044Leu
NM_001330749.2:c.2426C>T VV NP_001317678.1:p.Pro809Leu
ENST00000374647.9:c.3473C>T ENSP00000363779.5:p.Pro1158Leu
ENST00000467959.1:n.353C>T
ENST00000495759.5:n.613C>T
ENST00000537196.1:c.2426C>T ENSP00000439367.1:p.Pro809Leu