LDH info

Canonical Allele Identifier: CA026500
Gene: SLC46A1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 851
ClinVar RCV Id: RCV000000899
dbSNP Id: rs80338769

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.28405927del , CM000679.2:g.28405927del GRCh38
NC_000017.10:g.26732945del , CM000679.1:g.26732945del GRCh37
NC_000017.9:g.23757072del NCBI36
NG_013306.1:g.5290del , LRG_183:g.5290del

Transcript Alleles

HGVS Amino-acid change
NM_001242366.2:c.194del VV NP_001229295.1:p.Gly65AlafsTer25
NM_080669.5:c.194del VV NP_542400.2:p.Gly65AlafsTer25
XM_005277786.2:c.194del XP_005277843.1:p.Gly65AlafsTer25
XR_934643.1:n.89+476del
XM_005277786.3:c.194del XP_005277843.1:p.Gly65AlafsTer25
XM_017024110.1:c.-29del XP_016879599.1:p.=
NM_080669.6:c.194del VV MANE Preferred NP_542400.2:p.Gly65AlafsTer25
ENST00000581516.1:c.-29del ENSP00000462942.1:p.=
ENST00000582590.1:n.248del
ENST00000584426.1:c.-36-453del ENSP00000467416.1:p.=
ENST00000584995.5:c.-29del ENSP00000464190.1:p.=
ENST00000612814.4:c.194del ENSP00000480703.1:p.Gly65AlafsTer25
ENST00000618626.1:c.194del ENSP00000483652.1:p.Gly65AlafsTer25