LDH info

Canonical Allele Identifier: CA116485
Gene: HEXB HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 3878
dbSNP Id: rs28942073

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74718804C>T , CM000667.2:g.74718804C>T GRCh38
NC_000005.9:g.74014629C>T , CM000667.1:g.74014629C>T GRCh37
NC_000005.8:g.74050385C>T NCBI36
NG_009770.1:g.38661C>T
NG_009770.2:g.83782C>T

Transcript Alleles

HGVS Amino-acid change
NM_000521.3:c.1250C>T VV NP_000512.1:p.Pro417Leu
NM_001292004.1:c.575C>T VV NP_001278933.1:p.Pro192Leu
NM_000521.4:c.1250C>T VV MANE Preferred NP_000512.2:p.Pro417Leu
ENST00000261416.11:c.1250C>T ENSP00000261416.7:p.Pro417Leu
ENST00000503312.5:n.126C>T
ENST00000504459.5:n.447C>T
ENST00000511181.5:c.575C>T ENSP00000426285.1:p.Pro192Leu
ENST00000513336.5:n.186C>T
ENST00000513539.1:n.74-105C>T