LDH info

Canonical Allele Identifier: CA340083
Gene: SRD5A2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 3348
ClinVar RCV Id: RCV000003512
dbSNP Id: rs121434252

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31529370G>C , CM000664.2:g.31529370G>C GRCh38
NC_000002.11:g.31754440G>C , CM000664.1:g.31754440G>C GRCh37
NC_000002.10:g.31607944G>C NCBI36
NG_008365.1:g.56602C>G

Transcript Alleles

HGVS Amino-acid change
NM_000348.3:c.635C>G VV NP_000339.2:p.Pro212Arg
XM_011533069.1:c.413C>G XP_011531371.1:p.Pro138Arg
XM_011533070.1:c.380C>G XP_011531372.1:p.Pro127Arg
XM_011533071.1:c.380C>G XP_011531373.1:p.Pro127Arg
XM_011533072.1:c.380C>G XP_011531374.1:p.Pro127Arg
XM_011533069.2:c.413C>G XP_011531371.1:p.Pro138Arg
XM_011533072.2:c.380C>G XP_011531374.1:p.Pro127Arg
NM_000348.4:c.635C>G VV MANE Preferred NP_000339.2:p.Pro212Arg
ENST00000622030.1:c.635C>G ENSP00000477587.1:p.Pro212Arg