LDH info

Canonical Allele Identifier: CA16041443
Gene: ABCC8 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370375
ClinVar RCV Id: RCV000411703
dbSNP Id: rs1057516439

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17404544G>C , CM000673.2:g.17404544G>C GRCh38
NC_000011.9:g.17426091G>C , CM000673.1:g.17426091G>C GRCh37
NC_000011.8:g.17382667G>C NCBI36
NG_008867.1:g.77359C>G

Transcript Alleles

HGVS Amino-acid change
NM_000352.4:c.3525C>G VV NP_000343.2:p.Tyr1175Ter
NM_001287174.1:c.3528C>G VV NP_001274103.1:p.Tyr1176Ter
XM_011520331.1:c.3525C>G XP_011518633.1:p.Tyr1175Ter
XM_011520332.1:c.3528C>G XP_011518634.1:p.Tyr1176Ter
XM_011520333.1:c.2025C>G XP_011518635.1:p.Tyr675Ter
XR_930890.1:n.3591C>G
XR_930892.1:n.3491C>G
XR_930893.1:n.3488C>G
NM_001351295.1:c.3591C>G VV NP_001338224.1:p.Tyr1197Ter
NM_001351296.1:c.3525C>G VV NP_001338225.1:p.Tyr1175Ter
NM_001351297.1:c.3522C>G VV NP_001338226.1:p.Tyr1174Ter
NR_147094.1:n.3674C>G
XM_017018197.2:c.3594C>G XP_016873686.1:p.Tyr1198Ter
XM_017018199.1:c.3591C>G XP_016873688.1:p.Tyr1197Ter
XM_017018201.2:c.3594C>G XP_016873690.1:p.Tyr1198Ter
XM_017018202.1:c.2091C>G XP_016873691.1:p.Tyr697Ter
XM_017018204.1:c.1482C>G XP_016873693.1:p.Tyr494Ter
XM_024448668.1:c.1893C>G XP_024304436.1:p.Tyr631Ter
XR_001747945.2:n.3666C>G
XR_001747946.2:n.3597C>G
XR_002957189.1:n.3746C>G
ENST00000302539.8:c.3528C>G ENSP00000303960.4:p.Tyr1176Ter
ENST00000389817.7:c.3525C>G ENSP00000374467.3:p.Tyr1175Ter
ENST00000524561.1:n.657C>G
ENST00000527905.5:c.*401C>G ENSP00000431653.1:p.=
ENST00000531137.1:n.18C>G