LDH info

Canonical Allele Identifier: CA253769
Gene: IKBKAP HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 6087
ClinVar RCV Id: RCV000006460
dbSNP Id: rs28939712

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.108894062G>A , CM000671.2:g.108894062G>A GRCh38
NC_000009.11:g.111656342G>A , CM000671.1:g.111656342G>A GRCh37
NC_000009.10:g.110696163G>A NCBI36
NG_008788.1:g.45267C>T , LRG_251:g.45267C>T

Transcript Alleles

HGVS Amino-acid change
NM_003640.3:c.2741C>T , LRG_251t1:c.2741C>T NP_003631.2:p.Pro914Leu
XM_005252285.2:c.2399C>T XP_005252342.1:p.Pro800Leu
XM_011519136.1:c.2741C>T XP_011517438.1:p.Pro914Leu
XM_011519137.1:c.2399C>T XP_011517439.1:p.Pro800Leu
XR_929859.1:n.3119C>T
NM_001318360.1:c.2399C>T VV NP_001305289.1:p.Pro800Leu
NM_001330749.1:c.1694C>T VV NP_001317678.1:p.Pro565Leu
NM_003640.4:c.2741C>T VV NP_003631.2:p.Pro914Leu
XM_011519136.2:c.2741C>T XP_011517438.1:p.Pro914Leu
XR_929859.3:n.3130C>T
NM_003640.5:c.2741C>T VV MANE Preferred NP_003631.2:p.Pro914Leu
ENST00000374647.9:c.2741C>T ENSP00000363779.5:p.Pro914Leu
ENST00000537196.1:c.1694C>T ENSP00000439367.1:p.Pro565Leu