LDH info

Canonical Allele Identifier: CA364391567
Gene: EYS HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 498880
ClinVar RCV Id: RCV000595158

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.64230787C>T , CM000668.2:g.64230787C>T GRCh38
NC_000006.11:g.64940680C>T , CM000668.1:g.64940680C>T GRCh37
NC_000006.10:g.64998639C>T NCBI36
NG_023443.1:g.1481439G>A
NG_023443.2:g.1481439G>A

Transcript Alleles

HGVS Amino-acid change
NM_001142800.1:c.6229G>A VV NP_001136272.1:p.Val2077Ile
NM_001292009.1:c.6229G>A VV NP_001278938.1:p.Val2077Ile
NM_001142800.2:c.6229G>A VV NP_001136272.1:p.Val2077Ile
ENST00000370616.6:n.6229G>A ENSP00000359650.2:p.Val2077Ile
ENST00000370618.7:n.6229G>A ENSP00000359652.4:p.Val2077Ile
ENST00000370621.7:c.6229G>A ENSP00000359655.3:p.Val2077Ile
ENST00000503581.5:c.6229G>A ENSP00000424243.1:p.Val2077Ile