LDH info

Canonical Allele Identifier: CA260070
Gene: ABCC9 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 31949
ClinVar RCV Id: RCV000024627
dbSNP Id: rs387907211

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.21908099G>A , CM000674.2:g.21908099G>A GRCh38
NC_000012.11:g.22061033G>A , CM000674.1:g.22061033G>A GRCh37
NC_000012.10:g.21952300G>A NCBI36
NG_012819.1:g.33596C>T , LRG_377:g.33596C>T

Transcript Alleles

HGVS Amino-acid change
NM_005691.3:c.1433C>T VV NP_005682.2:p.Ala478Val
NM_020297.3:c.1433C>T VV NP_064693.2:p.Ala478Val
XM_005253284.2:c.1433C>T XP_005253341.1:p.Ala478Val
XM_005253286.2:c.1433C>T XP_005253343.1:p.Ala478Val
XM_005253287.3:c.1433C>T XP_005253344.1:p.Ala478Val
XM_005253288.2:c.1433C>T XP_005253345.1:p.Ala478Val
XM_005253289.2:c.1433C>T XP_005253346.1:p.Ala478Val
XM_005253290.2:c.1433C>T XP_005253347.1:p.Ala478Val
XM_006719025.2:c.1433C>T XP_006719088.1:p.Ala478Val
XM_011520545.1:c.1433C>T XP_011518847.1:p.Ala478Val
XM_005253284.4:c.1433C>T XP_005253341.1:p.Ala478Val
XM_005253286.4:c.1433C>T XP_005253343.1:p.Ala478Val
XM_005253287.5:c.1433C>T XP_005253344.1:p.Ala478Val
XM_005253288.4:c.1433C>T XP_005253345.1:p.Ala478Val
XM_005253289.4:c.1433C>T XP_005253346.1:p.Ala478Val
XM_005253290.4:c.1433C>T XP_005253347.1:p.Ala478Val
XM_006719025.4:c.1433C>T XP_006719088.1:p.Ala478Val
XM_011520545.3:c.1433C>T XP_011518847.1:p.Ala478Val
ENST00000261200.8:n.1433C>T ENSP00000261200.4:p.Ala478Val
ENST00000261201.8:n.1433C>T ENSP00000261201.4:p.Ala478Val
ENST00000544039.5:n.422C>T ENSP00000440521.1:p.Ala141Val