LDH info

Canonical Allele Identifier: CA10633787
Gene: ERCC5 HGNC NCBI
BIVM-ERCC5 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 310904
ClinVar RCV Id: RCV000278463
dbSNP Id: rs2296147

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.102846025T>C , CM000675.2:g.102846025T>C GRCh38
NC_000013.10:g.103498375T>C , CM000675.1:g.103498375T>C GRCh37
NC_000013.9:g.102296376T>C NCBI36
NG_007146.1:g.5202T>C , LRG_464:g.5202T>C

Transcript Alleles

HGVS Amino-acid change
NM_000123.3:c.-242T>C , LRG_464t1:c.-242T>C (ERCC5) NP_000114.2:p.=
NM_001204425.1:c.1451-6093T>C (BIVM-ERCC5) VV NP_001191354.1:p.=
NM_001204425.2:c.1451-6093T>C (BIVM-ERCC5) VV NP_001191354.2:p.=
ENST00000355739.8:c.-242T>C ENSP00000347978.4:p.=
ENST00000535557.5:c.-242T>C ENSP00000442117.1:p.=
ENST00000602836.1:n.1365-6093T>C