LDH info

Canonical Allele Identifier: CA121036
Gene: G6PD HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 10409
ClinVar RCV Id: RCV000011152
dbSNP Id: rs137852344

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154532245G>C , CM000685.2:g.154532245G>C GRCh38
NC_000023.10:g.153760460G>C , CM000685.1:g.153760460G>C GRCh37
NC_000023.9:g.153413654G>C NCBI36
NG_009015.2:g.20328C>G

Transcript Alleles

HGVS Amino-acid change
NM_000402.4:c.1490C>G VV NP_000393.4:p.Pro497Arg
NM_001042351.2:c.1400C>G VV NP_001035810.1:p.Pro467Arg
XM_005274657.2:c.1493C>G XP_005274714.1:p.Pro498Arg
XM_005274658.2:c.1403C>G XP_005274715.1:p.Pro468Arg
NM_001360016.2:c.1400C>G VV MANE Preferred NP_001346945.1:p.Pro467Arg
NM_001042351.3:c.1400C>G VV NP_001035810.1:p.Pro467Arg
ENST00000369620.6:c.1538C>G ENSP00000358633.2:p.Pro513Arg
ENST00000393562.6:c.1490C>G ENSP00000377192.2:p.Pro497Arg
ENST00000393564.6:c.1400C>G ENSP00000377194.2:p.Pro467Arg
ENST00000490651.1:n.621C>G
ENST00000621232.4:c.1400C>G ENSP00000483686.1:p.Pro467Arg