LDH info

Canonical Allele Identifier: CA277210
Gene: ERCC6 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 212733
dbSNP Id: rs751838040

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49530797G>A , CM000672.2:g.49530797G>A GRCh38
NC_000010.10:g.50738843G>A , CM000672.1:g.50738843G>A GRCh37
NC_000010.9:g.50408849G>A NCBI36
NG_009442.1:g.13305C>T , LRG_465:g.13305C>T

Transcript Alleles

HGVS Amino-acid change
NM_000124.3:c.466C>T VV NP_000115.1:p.Gln156Ter
NM_001277058.1:c.466C>T VV NP_001263987.1:p.Gln156Ter
NM_001277059.1:c.466C>T VV NP_001263988.1:p.Gln156Ter
NM_001346440.1:c.466C>T VV NP_001333369.1:p.Gln156Ter
NM_000124.4:c.466C>T VV MANE Preferred NP_000115.1:p.Gln156Ter
ENST00000355832.9:c.466C>T ENSP00000348089.5:p.Gln156Ter
ENST00000447839.6:c.466C>T ENSP00000387966.2:p.Gln156Ter
ENST00000462247.1:c.466C>T ENSP00000422827.1:p.Gln156Ter
ENST00000515869.1:c.466C>T ENSP00000423550.1:p.Gln156Ter