LDH info

Canonical Allele Identifier: CA10571912
Gene: AMELY HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs2071394

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.6868113C>T , CM000686.2:g.6868113C>T GRCh38
NC_000024.9:g.6736154C>T , CM000686.1:g.6736154C>T GRCh37
NC_000024.8:g.6796154C>T NCBI36
NG_008011.1:g.10915G>A

Transcript Alleles

HGVS Amino-acid change
NM_001143.1:c.497G>A VV NP_001134.1:p.Arg166Gln
XM_011531472.1:c.539G>A XP_011529774.1:p.Arg180Gln
NM_001364814.1:c.539G>A VV NP_001351743.1:p.Arg180Gln
ENST00000215479.9:c.497G>A ENSP00000215479.5:p.Arg166Gln
ENST00000383036.1:n.539G>A ENSP00000372505.1:p.Arg180Gln