LDH info

Canonical Allele Identifier: CA274698
Gene: ERCC6 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 190158
dbSNP Id: rs202080674

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49482848G>A , CM000672.2:g.49482848G>A GRCh38
NC_000010.10:g.50690894G>A , CM000672.1:g.50690894G>A GRCh37
NC_000010.9:g.50360900G>A NCBI36
NG_009442.1:g.61254C>T , LRG_465:g.61254C>T

Transcript Alleles

HGVS Amino-acid change
NM_000124.3:c.2008C>T VV NP_000115.1:p.Arg670Trp
NM_001346440.1:c.2008C>T VV NP_001333369.1:p.Arg670Trp
NM_000124.4:c.2008C>T VV MANE Preferred NP_000115.1:p.Arg670Trp
ENST00000355832.9:c.2008C>T ENSP00000348089.5:p.Arg670Trp
ENST00000623073.3:c.*400C>T ENSP00000485650.1:p.=
ENST00000623115.3:c.118C>T ENSP00000485321.1:p.Arg40Trp