LDH info

Canonical Allele Identifier: CA16041441
Gene: ABCC8 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371442
ClinVar RCV Id: RCV000411391
dbSNP Id: rs1057517274

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17402659A>T , CM000673.2:g.17402659A>T GRCh38
NC_000011.9:g.17424206A>T , CM000673.1:g.17424206A>T GRCh37
NC_000011.8:g.17380782A>T NCBI36
NG_008867.1:g.79244T>A

Transcript Alleles

HGVS Amino-acid change
NM_000352.4:c.3650+2T>A VV NP_000343.2:p.=
NM_001287174.1:c.3653+2T>A VV NP_001274103.1:p.=
XM_011520331.1:c.3650+2T>A XP_011518633.1:p.=
XM_011520332.1:c.3653+2T>A XP_011518634.1:p.=
XM_011520333.1:c.2150+2T>A XP_011518635.1:p.=
XR_930890.1:n.3716+2T>A
XR_930892.1:n.3616+2T>A
XR_930893.1:n.3613+2T>A
NM_001351295.1:c.3716+2T>A VV NP_001338224.1:p.=
NM_001351296.1:c.3650+2T>A VV NP_001338225.1:p.=
NM_001351297.1:c.3647+2T>A VV NP_001338226.1:p.=
NR_147094.1:n.3799+2T>A
XM_017018197.2:c.3719+2T>A XP_016873686.1:p.=
XM_017018199.1:c.3716+2T>A XP_016873688.1:p.=
XM_017018201.2:c.3719+2T>A XP_016873690.1:p.=
XM_017018202.1:c.2216+2T>A XP_016873691.1:p.=
XM_017018204.1:c.1607+2T>A XP_016873693.1:p.=
XM_024448668.1:c.2018+2T>A XP_024304436.1:p.=
XR_001747945.2:n.3791+2T>A
XR_001747946.2:n.3722+2T>A
XR_002957189.1:n.3871+2T>A
ENST00000302539.8:c.3653+2T>A ENSP00000303960.4:p.=
ENST00000389817.7:c.3650+2T>A ENSP00000374467.3:p.=
ENST00000527905.5:c.*526+2T>A ENSP00000431653.1:p.=
ENST00000528374.1:n.120+2T>A
ENST00000531137.1:n.143+2T>A
ENST00000531891.1:n.18+2T>A