LDH info

Canonical Allele Identifier: CA280997
Gene: CDH1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 12240
ClinVar RCV Id: RCV000013027
dbSNP Id: rs121964876

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68738318G>T , CM000678.2:g.68738318G>T GRCh38
NC_000016.9:g.68772221G>T , CM000678.1:g.68772221G>T GRCh37
NC_000016.8:g.67329722G>T NCBI36
NG_008021.1:g.6027G>T , LRG_301:g.6027G>T

Transcript Alleles

HGVS Amino-acid change
NM_004360.3:c.70G>T , LRG_301t1:c.70G>T NP_004351.1:p.Glu24Ter
NM_001317184.1:c.70G>T VV NP_001304113.1:p.Glu24Ter
NM_001317185.1:c.-1546G>T VV NP_001304114.1:p.=
NM_001317186.1:c.-1750G>T VV NP_001304115.1:p.=
NM_004360.4:c.70G>T VV NP_004351.1:p.Glu24Ter
NM_004360.5:c.70G>T VV MANE Preferred NP_004351.1:p.Glu24Ter
ENST00000261769.9:c.70G>T ENSP00000261769.4:p.Glu24Ter
ENST00000422392.6:c.70G>T ENSP00000414946.2:p.Glu24Ter
ENST00000566510.5:c.70G>T ENSP00000458139.1:p.Glu24Ter
ENST00000566612.5:c.70G>T ENSP00000454782.1:p.Glu24Ter
ENST00000611625.4:c.70G>T ENSP00000481063.1:p.Glu24Ter
ENST00000612417.4:c.70G>T ENSP00000478360.1:p.Glu24Ter
ENST00000621016.4:c.70G>T ENSP00000480664.1:p.Glu24Ter