LDH info

Canonical Allele Identifier: CA291204
Gene: IKBKAP HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 137569
dbSNP Id: rs17853166

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.108917660T>C , CM000671.2:g.108917660T>C GRCh38
NC_000009.11:g.111679940T>C , CM000671.1:g.111679940T>C GRCh37
NC_000009.10:g.110719761T>C NCBI36
NG_008788.1:g.21669A>G , LRG_251:g.21669A>G

Transcript Alleles

HGVS Amino-acid change
NM_003640.3:c.751A>G , LRG_251t1:c.751A>G NP_003631.2:p.Ser251Gly
XM_005252285.2:c.409A>G XP_005252342.1:p.Ser137Gly
XM_011519136.1:c.751A>G XP_011517438.1:p.Ser251Gly
XM_011519137.1:c.409A>G XP_011517439.1:p.Ser137Gly
XR_929859.1:n.1067A>G
NM_001318360.1:c.409A>G VV NP_001305289.1:p.Ser137Gly
NM_001330749.1:c.-297A>G VV NP_001317678.1:p.=
NM_003640.4:c.751A>G VV NP_003631.2:p.Ser251Gly
XM_011519136.2:c.751A>G XP_011517438.1:p.Ser251Gly
XR_929859.3:n.1078A>G
NM_003640.5:c.751A>G VV MANE Preferred NP_003631.2:p.Ser251Gly
NM_001318360.2:c.409A>G VV NP_001305289.1:p.Ser137Gly
NM_001330749.2:c.-297A>G VV NP_001317678.1:p.=
ENST00000374647.9:c.751A>G ENSP00000363779.5:p.Ser251Gly
ENST00000537196.1:c.-297A>G ENSP00000439367.1:p.=