LDH info

Canonical Allele Identifier: CA5902756
Gene: ABCC8 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 235633
dbSNP Id: rs139964066

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17402671G>A , CM000673.2:g.17402671G>A GRCh38
NC_000011.9:g.17424218G>A , CM000673.1:g.17424218G>A GRCh37
NC_000011.8:g.17380794G>A NCBI36
NG_008867.1:g.79232C>T

Transcript Alleles

HGVS Amino-acid change
NM_000352.4:c.3640C>T VV NP_000343.2:p.Arg1214Trp
NM_001287174.1:c.3643C>T VV NP_001274103.1:p.Arg1215Trp
XM_011520331.1:c.3640C>T XP_011518633.1:p.Arg1214Trp
XM_011520332.1:c.3643C>T XP_011518634.1:p.Arg1215Trp
XM_011520333.1:c.2140C>T XP_011518635.1:p.Arg714Trp
XR_930890.1:n.3706C>T
XR_930892.1:n.3606C>T
XR_930893.1:n.3603C>T
NM_001351295.1:c.3706C>T VV NP_001338224.1:p.Arg1236Trp
NM_001351296.1:c.3640C>T VV NP_001338225.1:p.Arg1214Trp
NM_001351297.1:c.3637C>T VV NP_001338226.1:p.Arg1213Trp
NR_147094.1:n.3789C>T
XM_017018197.2:c.3709C>T XP_016873686.1:p.Arg1237Trp
XM_017018199.1:c.3706C>T XP_016873688.1:p.Arg1236Trp
XM_017018201.2:c.3709C>T XP_016873690.1:p.Arg1237Trp
XM_017018202.1:c.2206C>T XP_016873691.1:p.Arg736Trp
XM_017018204.1:c.1597C>T XP_016873693.1:p.Arg533Trp
XM_024448668.1:c.2008C>T XP_024304436.1:p.Arg670Trp
XR_001747945.2:n.3781C>T
XR_001747946.2:n.3712C>T
XR_002957189.1:n.3861C>T
ENST00000302539.8:c.3643C>T ENSP00000303960.4:p.Arg1215Trp
ENST00000389817.7:c.3640C>T ENSP00000374467.3:p.Arg1214Trp
ENST00000527905.5:c.*516C>T ENSP00000431653.1:p.=
ENST00000528374.1:n.110C>T
ENST00000531137.1:n.133C>T
ENST00000531891.1:n.8C>T