LDH info

Canonical Allele Identifier: CA118738
Gene: SC5D HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 7356
ClinVar RCV Id: RCV000007781
dbSNP Id: rs104894297

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121303512A>C , CM000673.2:g.121303512A>C GRCh38
NC_000011.9:g.121174221A>C , CM000673.1:g.121174221A>C GRCh37
NC_000011.8:g.120679431A>C NCBI36
NG_009446.1:g.15834A>C

Transcript Alleles

HGVS Amino-acid change
NM_001024956.2:c.137A>C VV NP_001020127.1:p.Tyr46Ser
NM_006918.4:c.137A>C VV NP_008849.2:p.Tyr46Ser
NM_006918.5:c.137A>C VV MANE Preferred NP_008849.2:p.Tyr46Ser
ENST00000264027.8:c.137A>C ENSP00000264027.4:p.Tyr46Ser
ENST00000392789.2:c.137A>C ENSP00000376539.2:p.Tyr46Ser
ENST00000524683.5:n.193A>C
ENST00000527762.5:c.137A>C ENSP00000436290.1:p.Tyr46Ser
ENST00000531140.1:n.205A>C
ENST00000534230.5:c.137A>C ENSP00000432550.1:p.Tyr46Ser
ENST00000534455.5:n.283A>C