LDH info

Canonical Allele Identifier: CA5174529
Gene: IKBKAP HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370257
ClinVar RCV Id: RCV000410939
dbSNP Id: rs749052963

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.108893986G>T , CM000671.2:g.108893986G>T GRCh38
NC_000009.11:g.111656266G>T , CM000671.1:g.111656266G>T GRCh37
NC_000009.10:g.110696087G>T NCBI36
NG_008788.1:g.45343C>A , LRG_251:g.45343C>A

Transcript Alleles

HGVS Amino-acid change
NM_003640.3:c.2817C>A , LRG_251t1:c.2817C>A NP_003631.2:p.Tyr939Ter
XM_005252285.2:c.2475C>A XP_005252342.1:p.Tyr825Ter
XM_011519136.1:c.2817C>A XP_011517438.1:p.Tyr939Ter
XM_011519137.1:c.2475C>A XP_011517439.1:p.Tyr825Ter
XR_929859.1:n.3195C>A
NM_001318360.1:c.2475C>A VV NP_001305289.1:p.Tyr825Ter
NM_001330749.1:c.1770C>A VV NP_001317678.1:p.Tyr590Ter
NM_003640.4:c.2817C>A VV NP_003631.2:p.Tyr939Ter
XM_011519136.2:c.2817C>A XP_011517438.1:p.Tyr939Ter
XR_929859.3:n.3206C>A
NM_003640.5:c.2817C>A VV MANE Preferred NP_003631.2:p.Tyr939Ter
NM_001318360.2:c.2475C>A VV NP_001305289.1:p.Tyr825Ter
NM_001330749.2:c.1770C>A VV NP_001317678.1:p.Tyr590Ter
ENST00000374647.9:c.2817C>A ENSP00000363779.5:p.Tyr939Ter
ENST00000537196.1:c.1770C>A ENSP00000439367.1:p.Tyr590Ter