LDH info

Canonical Allele Identifier: CA6620061
Gene: PMEL HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs142410496

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.55957137A>G , CM000674.2:g.55957137A>G GRCh38
NC_000012.11:g.56350921A>G , CM000674.1:g.56350921A>G GRCh37
NC_000012.10:g.54637188A>G NCBI36
NG_028086.1:g.14576T>C

Transcript Alleles

HGVS Amino-acid change
NM_001200053.1:c.908T>C VV NP_001186982.1:p.Leu303Pro
NM_001200054.1:c.1166T>C VV NP_001186983.1:p.Leu389Pro
NM_006928.4:c.1166T>C VV NP_008859.1:p.Leu389Pro
XM_006719569.1:c.1166T>C XP_006719632.1:p.Leu389Pro
XM_011538685.1:c.1166T>C XP_011536987.1:p.Leu389Pro
XM_011538686.1:c.1117+49T>C XP_011536988.1:p.=
XM_011538687.1:c.1117+49T>C XP_011536989.1:p.=
NM_001320121.1:c.1117+49T>C VV NP_001307050.1:p.=
NM_001320122.1:c.1117+49T>C VV NP_001307051.1:p.=
ENST00000449260.6:c.1166T>C ENSP00000402758.2:p.Leu389Pro
ENST00000547137.5:c.1004T>C ENSP00000448849.1:p.Leu335Pro
ENST00000548493.5:c.1166T>C ENSP00000447374.1:p.Leu389Pro
ENST00000548747.5:c.1166T>C ENSP00000448828.1:p.Leu389Pro
ENST00000548803.5:c.670+49T>C ENSP00000447732.1:p.=
ENST00000549404.5:n.779+49T>C
ENST00000549564.1:n.206T>C
ENST00000550447.5:c.359-1274T>C ENSP00000448029.1:p.=
ENST00000550464.5:c.908T>C ENSP00000450036.1:p.Leu303Pro
ENST00000552882.5:c.1166T>C ENSP00000449690.1:p.Leu389Pro