LDH info

Canonical Allele Identifier: CA16041854
Gene: SGCA HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370513
ClinVar RCV Id: RCV000410962
dbSNP Id: rs1057516548

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50170150del , CM000679.2:g.50170150del GRCh38
NC_000017.10:g.48247511del , CM000679.1:g.48247511del GRCh37
NC_000017.9:g.45602510del NCBI36
NG_008889.1:g.9146del , LRG_203:g.9146del

Transcript Alleles

HGVS Amino-acid change
NM_000023.2:c.755del , LRG_203t1:c.755del NP_000014.1:p.Lys252SerfsTer?
NM_001135697.1:c.585-490del VV NP_001129169.1:p.=
XM_011525120.1:c.755del XP_011523422.1:p.Lys252SerfsTer?
XM_011525121.1:c.605del XP_011523423.1:p.Lys202SerfsTer?
XM_011525122.1:c.748-490del XP_011523424.1:p.=
XM_011525123.1:c.585-490del XP_011523425.1:p.=
XM_011525124.1:c.449del XP_011523426.1:p.Lys150SerfsTer?
XR_934517.1:n.814-490del
NM_000023.3:c.755del VV NP_000014.1:p.Lys252SerfsTer?
NM_001135697.2:c.585-490del VV NP_001129169.1:p.=
NR_135553.1:n.804-490del
XM_011525120.2:c.917del XP_011523422.2:p.Lys306SerfsTer?
XM_011525121.2:c.767del XP_011523423.2:p.Lys256SerfsTer?
XM_011525122.2:c.910-490del XP_011523424.2:p.=
XM_011525123.2:c.747-490del XP_011523425.2:p.=
XM_011525124.2:c.449del XP_011523426.1:p.Lys150SerfsTer?
XM_024450873.1:c.449del XP_024306641.1:p.Lys150SerfsTer?
XR_002958056.1:n.1352del
NM_000023.4:c.755del VV MANE Preferred NP_000014.1:p.Lys252SerfsTer?
NM_001135697.3:c.585-490del VV NP_001129169.1:p.=
NR_135553.2:n.784-490del
ENST00000262018.7:c.755del ENSP00000262018.3:p.Lys252SerfsTer?
ENST00000344627.10:c.585-490del ENSP00000345522.6:p.=
ENST00000504073.1:n.72del
ENST00000511303.5:n.306-490del ENSP00000426104.1:p.=
ENST00000512526.1:n.420-490del
ENST00000513821.5:c.748-490del ENSP00000426571.1:p.=
ENST00000513942.5:n.376-490del