LDH info

Canonical Allele Identifier: CA6620070
Gene: PMEL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 769389
ClinVar RCV Id: RCV000948397
dbSNP Id: rs17118154

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.55957193C>G , CM000674.2:g.55957193C>G GRCh38
NC_000012.11:g.56350977C>G , CM000674.1:g.56350977C>G GRCh37
NC_000012.10:g.54637244C>G NCBI36
NG_028086.1:g.14520G>C

Transcript Alleles

HGVS Amino-acid change
NM_001200053.1:c.852G>C VV NP_001186982.1:p.Glu284Asp
NM_001200054.1:c.1110G>C VV NP_001186983.1:p.Glu370Asp
NM_006928.4:c.1110G>C VV NP_008859.1:p.Glu370Asp
XM_006719569.1:c.1110G>C XP_006719632.1:p.Glu370Asp
XM_011538685.1:c.1110G>C XP_011536987.1:p.Glu370Asp
XM_011538686.1:c.1110G>C XP_011536988.1:p.Glu370Asp
XM_011538687.1:c.1110G>C XP_011536989.1:p.Glu370Asp
NM_001320121.1:c.1110G>C VV NP_001307050.1:p.Glu370Asp
NM_001320122.1:c.1110G>C VV NP_001307051.1:p.Glu370Asp
ENST00000449260.6:c.1110G>C ENSP00000402758.2:p.Glu370Asp
ENST00000547137.5:c.948G>C ENSP00000448849.1:p.Glu316Asp
ENST00000548493.5:c.1110G>C ENSP00000447374.1:p.Glu370Asp
ENST00000548747.5:c.1110G>C ENSP00000448828.1:p.Glu370Asp
ENST00000548803.5:c.663G>C ENSP00000447732.1:p.Glu221Asp
ENST00000549404.5:n.772G>C
ENST00000549564.1:n.150G>C
ENST00000550447.5:c.358+1280G>C ENSP00000448029.1:p.=
ENST00000550464.5:c.852G>C ENSP00000450036.1:p.Glu284Asp
ENST00000552882.5:c.1110G>C ENSP00000449690.1:p.Glu370Asp