LDH info

Canonical Allele Identifier: CA596938
Gene: CLCN6 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs1023252

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11838976G>T , CM000663.2:g.11838976G>T GRCh38
NC_000001.10:g.11899033G>T , CM000663.1:g.11899033G>T GRCh37
NC_000001.9:g.11821620G>T NCBI36
NG_008766.1:g.37827G>T

Transcript Alleles

HGVS Amino-acid change
NM_001256959.1:c.2463+316G>T VV NP_001243888.1:p.=
NM_001286.3:c.2529+316G>T VV NP_001277.1:p.=
NR_046428.1:n.2680+316G>T
NM_001286.4:c.2529+316G>T VV NP_001277.1:p.=
ENST00000312413.10:c.2463+316G>T ENSP00000308367.7:p.=
ENST00000346436.10:c.2529+316G>T ENSP00000234488.9:p.=
ENST00000376496.4:c.2845G>T ENSP00000365679.3:p.Asp949Tyr