LDH info

Canonical Allele Identifier: CA5174517
Gene: IKBKAP HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370227
ClinVar RCV Id: RCV000409912
dbSNP Id: rs754348901

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.108893941A>G , CM000671.2:g.108893941A>G GRCh38
NC_000009.11:g.111656221A>G , CM000671.1:g.111656221A>G GRCh37
NC_000009.10:g.110696042A>G NCBI36
NG_008788.1:g.45388T>C , LRG_251:g.45388T>C

Transcript Alleles

HGVS Amino-acid change
NM_003640.3:c.2860+2T>C , LRG_251t1:c.2860+2T>C NP_003631.2:p.=
XM_005252285.2:c.2518+2T>C XP_005252342.1:p.=
XM_011519136.1:c.2860+2T>C XP_011517438.1:p.=
XM_011519137.1:c.2518+2T>C XP_011517439.1:p.=
XR_929859.1:n.3238+2T>C
NM_001318360.1:c.2518+2T>C VV NP_001305289.1:p.=
NM_001330749.1:c.1813+2T>C VV NP_001317678.1:p.=
NM_003640.4:c.2860+2T>C VV NP_003631.2:p.=
XM_011519136.2:c.2860+2T>C XP_011517438.1:p.=
XR_929859.3:n.3249+2T>C
NM_003640.5:c.2860+2T>C VV MANE Preferred NP_003631.2:p.=
NM_001318360.2:c.2518+2T>C VV NP_001305289.1:p.=
NM_001330749.2:c.1813+2T>C VV NP_001317678.1:p.=
ENST00000374647.9:c.2860+2T>C ENSP00000363779.5:p.=
ENST00000537196.1:c.1813+2T>C ENSP00000439367.1:p.=