LDH info

Canonical Allele Identifier: CA252519
Gene: SMPD1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 2988
ClinVar RCV Id: RCV000003122
dbSNP Id: rs120074123

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6393278A>G , CM000673.2:g.6393278A>G GRCh38
NC_000011.9:g.6414508A>G , CM000673.1:g.6414508A>G GRCh37
NC_000011.8:g.6371084A>G NCBI36
NG_011780.1:g.7854A>G
NG_029615.1:g.31137T>C

Transcript Alleles

HGVS Amino-acid change
NM_000543.4:c.1154A>G VV NP_000534.3:p.Asn385Ser
NM_001007593.2:c.1151A>G VV NP_001007594.2:p.Asn384Ser
XM_005253075.3:c.1154A>G XP_005253132.1:p.Asn385Ser
XM_011520303.1:c.1132-339A>G XP_011518605.1:p.=
XM_011520304.1:c.1132-339A>G XP_011518606.1:p.=
XR_930886.1:n.1492A>G
NM_001318087.1:c.1154A>G VV NP_001305016.1:p.Asn385Ser
NM_001318088.1:c.233A>G VV NP_001305017.1:p.Asn78Ser
NM_001365135.1:c.1132-339A>G VV NP_001352064.1:p.=
NR_027400.2:n.1277-339A>G
NR_134502.1:n.686A>G
XM_011520304.2:c.1132-339A>G XP_011518606.1:p.=
XR_001747940.2:n.1319A>G
XR_002957158.1:n.1319A>G
NM_000543.5:c.1154A>G VV MANE Preferred NP_000534.3:p.Asn385Ser
NM_001007593.3:c.1151A>G VV NP_001007594.2:p.Asn384Ser
NM_001318087.2:c.1154A>G VV NP_001305016.1:p.Asn385Ser
NM_001318088.2:c.233A>G VV NP_001305017.1:p.Asn78Ser
NM_001365135.2:c.1132-339A>G VV NP_001352064.1:p.=
NR_027400.3:n.1217-339A>G
NR_134502.2:n.626A>G
ENST00000342245.8:c.1154A>G ENSP00000340409.4:p.Asn385Ser
ENST00000526280.1:n.321-339A>G
ENST00000527275.5:c.1151A>G ENSP00000435350.1:p.Asn384Ser
ENST00000531303.5:c.501A>G ENSP00000432625.1:p.Glu167=
ENST00000533123.5:c.1092-339A>G ENSP00000435950.1:p.=
ENST00000534405.5:c.1194A>G ENSP00000434353.1:p.Glu398=