LDH info

Canonical Allele Identifier: CA333982
Gene: GJB1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 21084
dbSNP Id: rs116840815

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71223750C>T , CM000685.2:g.71223750C>T GRCh38
NC_000023.10:g.70443600C>T , CM000685.1:g.70443600C>T GRCh37
NC_000023.9:g.70360325C>T NCBI36
NG_008357.1:g.13539C>T , LRG_245:g.13539C>T

Transcript Alleles

HGVS Amino-acid change
NM_000166.5:c.43C>T VV NP_000157.1:p.Arg15Trp
NM_001097642.2:c.43C>T , LRG_245t1:c.43C>T NP_001091111.1:p.Arg15Trp
XM_011530907.1:c.43C>T XP_011529209.1:p.Arg15Trp
XM_011530907.2:c.43C>T XP_011529209.1:p.Arg15Trp
ENST00000361726.6:c.43C>T ENSP00000354900.6:p.Arg15Trp
ENST00000374022.3:c.43C>T ENSP00000363134.3:p.Arg15Trp
ENST00000374029.1:c.43C>T ENSP00000363141.1:p.Arg15Trp
ENST00000447581.1:c.43C>T ENSP00000407223.1:p.Arg15Trp