LDH info

Canonical Allele Identifier: CA224901
Gene: SRD5A2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 97400
dbSNP Id: rs523349

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31580636G>C , CM000664.2:g.31580636G>C GRCh38
NC_000002.11:g.31805706G>C , CM000664.1:g.31805706G>C GRCh37
NC_000002.10:g.31659210G>C NCBI36
NG_008365.1:g.5336C>G

Transcript Alleles

HGVS Amino-acid change
NM_000348.3:c.265C>G VV NP_000339.2:p.Leu89Val
XM_011533068.1:c.265C>G XP_011531370.1:p.Leu89Val
XM_011533070.1:c.27-46870C>G XP_011531372.1:p.=
XM_011533071.1:c.27-46870C>G XP_011531373.1:p.=
XM_011533072.1:c.27-46870C>G XP_011531374.1:p.=
XM_011533072.2:c.27-46870C>G XP_011531374.1:p.=
NM_000348.4:c.265C>G VV MANE Preferred NP_000339.2:p.Leu89Val
ENST00000622030.1:c.265C>G ENSP00000477587.1:p.Leu89Val