LDH info

Canonical Allele Identifier: CA261655
Gene: GJB2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 44767
dbSNP Id: rs111033401

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189573C>T , CM000675.2:g.20189573C>T GRCh38
NC_000013.10:g.20763712C>T , CM000675.1:g.20763712C>T GRCh37
NC_000013.9:g.19661712C>T NCBI36
NG_008358.1:g.8403G>A

Transcript Alleles

HGVS Amino-acid change
NM_004004.5:c.9G>A VV NP_003995.2:p.Trp3Ter
XM_011535049.1:c.9G>A XP_011533351.1:p.Trp3Ter
XM_011535049.2:c.9G>A XP_011533351.1:p.Trp3Ter
NM_004004.6:c.9G>A VV MANE Preferred NP_003995.2:p.Trp3Ter
ENST00000382844.1:c.9G>A ENSP00000372295.1:p.Trp3Ter
ENST00000382848.4:c.9G>A ENSP00000372299.4:p.Trp3Ter