LDH info

Canonical Allele Identifier: CA8129823
Gene: CDH1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 463775
ClinVar RCV Id: RCV000546548
dbSNP Id: rs781409616

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68801789C>T , CM000678.2:g.68801789C>T GRCh38
NC_000016.9:g.68835692C>T , CM000678.1:g.68835692C>T GRCh37
NC_000016.8:g.67393193C>T NCBI36
NG_008021.1:g.69498C>T , LRG_301:g.69498C>T

Transcript Alleles

HGVS Amino-acid change
NM_004360.3:c.283C>T , LRG_301t1:c.283C>T NP_004351.1:p.Gln95Ter
XM_011523488.1:c.-453C>T XP_011521790.1:p.=
XM_011523489.1:c.-453C>T XP_011521791.1:p.=
NM_001317184.1:c.283C>T VV NP_001304113.1:p.Gln95Ter
NM_001317185.1:c.-1333C>T VV NP_001304114.1:p.=
NM_001317186.1:c.-1537C>T VV NP_001304115.1:p.=
NM_004360.4:c.283C>T VV NP_004351.1:p.Gln95Ter
NM_004360.5:c.283C>T VV MANE Preferred NP_004351.1:p.Gln95Ter
ENST00000261769.9:c.283C>T ENSP00000261769.4:p.Gln95Ter
ENST00000422392.6:c.283C>T ENSP00000414946.2:p.Gln95Ter
ENST00000561751.1:n.50C>T
ENST00000562836.5:n.354C>T
ENST00000564676.5:n.565C>T
ENST00000564745.1:n.278C>T
ENST00000566510.5:c.283C>T ENSP00000458139.1:p.Gln95Ter
ENST00000566612.5:c.283C>T ENSP00000454782.1:p.Gln95Ter
ENST00000611625.4:c.283C>T ENSP00000481063.1:p.Gln95Ter
ENST00000612417.4:c.283C>T ENSP00000478360.1:p.Gln95Ter
ENST00000621016.4:c.283C>T ENSP00000480664.1:p.Gln95Ter