LDH info

Canonical Allele Identifier: CA16602411
Gene: KIT HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 375931
dbSNP Id: rs121913514
COSMIC: COSM1321

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54733174T>A , CM000666.2:g.54733174T>A GRCh38
NC_000004.11:g.55599340T>A , CM000666.1:g.55599340T>A GRCh37
NC_000004.10:g.55294097T>A NCBI36
NG_007456.1:g.80180T>A , LRG_307:g.80180T>A

Transcript Alleles

HGVS Amino-acid change
NM_000222.2:c.2466T>A , LRG_307t1:c.2466T>A NP_000213.1:p.Asn822Lys
NM_001093772.1:c.2454T>A VV NP_001087241.1:p.Asn818Lys
XM_005265740.1:c.2469T>A XP_005265797.1:p.Asn823Lys
XM_005265741.1:c.2466T>A XP_005265798.1:p.Asn822Lys
XM_005265742.1:c.2457T>A XP_005265799.1:p.Asn819Lys
XM_005265742.3:c.2457T>A XP_005265799.1:p.Asn819Lys
XM_017008178.1:c.2463T>A XP_016863667.1:p.Asn821Lys
XM_017008179.1:c.2454T>A XP_016863668.1:p.Asn818Lys
XM_017008180.1:c.2451T>A XP_016863669.1:p.Asn817Lys
ENST00000288135.5:c.2466T>A ENSP00000288135.5:p.Asn822Lys
ENST00000412167.6:c.2454T>A ENSP00000390987.2:p.Asn818Lys
ENST00000512959.1:n.519T>A