LDH info

Canonical Allele Identifier: CA213445
Gene: ABCC8 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 35609
dbSNP Id: rs141322087

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17404552C>T , CM000673.2:g.17404552C>T GRCh38
NC_000011.9:g.17426099C>T , CM000673.1:g.17426099C>T GRCh37
NC_000011.8:g.17382675C>T NCBI36
NG_008867.1:g.77351G>A

Transcript Alleles

HGVS Amino-acid change
NM_000352.4:c.3517G>A VV NP_000343.2:p.Val1173Met
NM_001287174.1:c.3520G>A VV NP_001274103.1:p.Val1174Met
XM_011520331.1:c.3517G>A XP_011518633.1:p.Val1173Met
XM_011520332.1:c.3520G>A XP_011518634.1:p.Val1174Met
XM_011520333.1:c.2017G>A XP_011518635.1:p.Val673Met
XR_930890.1:n.3583G>A
XR_930892.1:n.3483G>A
XR_930893.1:n.3480G>A
NM_001351295.1:c.3583G>A VV NP_001338224.1:p.Val1195Met
NM_001351296.1:c.3517G>A VV NP_001338225.1:p.Val1173Met
NM_001351297.1:c.3514G>A VV NP_001338226.1:p.Val1172Met
NR_147094.1:n.3666G>A
XM_017018197.2:c.3586G>A XP_016873686.1:p.Val1196Met
XM_017018199.1:c.3583G>A XP_016873688.1:p.Val1195Met
XM_017018201.2:c.3586G>A XP_016873690.1:p.Val1196Met
XM_017018202.1:c.2083G>A XP_016873691.1:p.Val695Met
XM_017018204.1:c.1474G>A XP_016873693.1:p.Val492Met
XM_024448668.1:c.1885G>A XP_024304436.1:p.Val629Met
XR_001747945.2:n.3658G>A
XR_001747946.2:n.3589G>A
XR_002957189.1:n.3738G>A
ENST00000302539.8:c.3520G>A ENSP00000303960.4:p.Val1174Met
ENST00000389817.7:c.3517G>A ENSP00000374467.3:p.Val1173Met
ENST00000524561.1:n.649G>A
ENST00000527905.5:c.*393G>A ENSP00000431653.1:p.=
ENST00000531137.1:n.10G>A