LDH info

Canonical Allele Identifier: CA119616
Gene: PMP22 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 8431
dbSNP Id: rs104894619

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.15231047G>A , CM000679.2:g.15231047G>A GRCh38
NC_000017.10:g.15134364G>A , CM000679.1:g.15134364G>A GRCh37
NC_000017.9:g.15075089G>A NCBI36
NG_007949.1:g.39281C>T , LRG_263:g.39281C>T

Transcript Alleles

HGVS Amino-acid change
NM_000304.3:c.353C>T VV NP_000295.1:p.Thr118Met
NM_001281455.1:c.353C>T VV NP_001268384.1:p.Thr118Met
NM_001281456.1:c.353C>T VV NP_001268385.1:p.Thr118Met
NM_153321.2:c.353C>T VV NP_696996.1:p.Thr118Met
NM_153322.2:c.353C>T VV NP_696997.1:p.Thr118Met
NR_104017.1:n.479C>T
NR_104018.1:n.379C>T
NM_000304.4:c.353C>T VV MANE Preferred NP_000295.1:p.Thr118Met
NM_001281456.2:c.353C>T VV NP_001268385.1:p.Thr118Met
NM_153321.3:c.353C>T VV NP_696996.1:p.Thr118Met
NM_153322.3:c.353C>T VV NP_696997.1:p.Thr118Met
NR_104017.2:n.448C>T
NR_104018.2:n.348C>T
ENST00000312280.7:c.353C>T ENSP00000308937.3:p.Thr118Met
ENST00000395936.5:c.*62C>T ENSP00000379268.1:p.=
ENST00000395938.6:c.353C>T ENSP00000379269.2:p.Thr118Met
ENST00000494511.5:c.174C>T ENSP00000462782.1:p.His58=
ENST00000612492.4:c.353C>T ENSP00000484631.1:p.Thr118Met