LDH info

Canonical Allele Identifier: CA116481
Gene: HEXB HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 3874
dbSNP Id: rs11556045

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74689390A>G , CM000667.2:g.74689390A>G GRCh38
NC_000005.9:g.73985215A>G , CM000667.1:g.73985215A>G GRCh37
NC_000005.8:g.74020971A>G NCBI36
NG_009770.1:g.9247A>G
NG_009770.2:g.54368A>G

Transcript Alleles

HGVS Amino-acid change
NM_000521.3:c.362A>G VV NP_000512.1:p.Lys121Arg
NM_001292004.1:c.-314A>G VV NP_001278933.1:p.=
NM_000521.4:c.362A>G VV MANE Preferred NP_000512.2:p.Lys121Arg
ENST00000261416.11:c.362A>G ENSP00000261416.7:p.Lys121Arg
ENST00000511181.5:c.-314A>G ENSP00000426285.1:p.=
ENST00000513079.5:n.427A>G
ENST00000515528.1:n.417A>G