LDH info

Canonical Allele Identifier: CA10654763
Gene: ABCC9 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 369679
ClinVar RCV Id: RCV000408624
dbSNP Id: rs1057516044

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.21913005A>G , CM000674.2:g.21913005A>G GRCh38
NC_000012.11:g.22065939A>G , CM000674.1:g.22065939A>G GRCh37
NC_000012.10:g.21957206A>G NCBI36
NG_012819.1:g.28690T>C , LRG_377:g.28690T>C

Transcript Alleles

HGVS Amino-acid change
NM_005691.3:c.878T>C VV NP_005682.2:p.Phe293Ser
NM_020297.3:c.878T>C VV NP_064693.2:p.Phe293Ser
XM_005253284.2:c.878T>C XP_005253341.1:p.Phe293Ser
XM_005253286.2:c.878T>C XP_005253343.1:p.Phe293Ser
XM_005253287.3:c.878T>C XP_005253344.1:p.Phe293Ser
XM_005253288.2:c.878T>C XP_005253345.1:p.Phe293Ser
XM_005253289.2:c.878T>C XP_005253346.1:p.Phe293Ser
XM_005253290.2:c.878T>C XP_005253347.1:p.Phe293Ser
XM_006719025.2:c.878T>C XP_006719088.1:p.Phe293Ser
XM_011520545.1:c.878T>C XP_011518847.1:p.Phe293Ser
XM_005253284.4:c.878T>C XP_005253341.1:p.Phe293Ser
XM_005253286.4:c.878T>C XP_005253343.1:p.Phe293Ser
XM_005253287.5:c.878T>C XP_005253344.1:p.Phe293Ser
XM_005253288.4:c.878T>C XP_005253345.1:p.Phe293Ser
XM_005253289.4:c.878T>C XP_005253346.1:p.Phe293Ser
XM_005253290.4:c.878T>C XP_005253347.1:p.Phe293Ser
XM_006719025.4:c.878T>C XP_006719088.1:p.Phe293Ser
XM_011520545.3:c.878T>C XP_011518847.1:p.Phe293Ser
ENST00000261200.8:n.878T>C ENSP00000261200.4:p.Phe293Ser
ENST00000261201.8:n.878T>C ENSP00000261201.4:p.Phe293Ser