LDH info

Canonical Allele Identifier: CA6620091
Gene: PMEL HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs748713829

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.55957309C>T , CM000674.2:g.55957309C>T GRCh38
NC_000012.11:g.56351093C>T , CM000674.1:g.56351093C>T GRCh37
NC_000012.10:g.54637360C>T NCBI36
NG_028086.1:g.14404G>A

Transcript Alleles

HGVS Amino-acid change
NM_001200053.1:c.736G>A VV NP_001186982.1:p.Val246Ile
NM_001200054.1:c.994G>A VV NP_001186983.1:p.Val332Ile
NM_006928.4:c.994G>A VV NP_008859.1:p.Val332Ile
XM_006719569.1:c.994G>A XP_006719632.1:p.Val332Ile
XM_011538685.1:c.994G>A XP_011536987.1:p.Val332Ile
XM_011538686.1:c.994G>A XP_011536988.1:p.Val332Ile
XM_011538687.1:c.994G>A XP_011536989.1:p.Val332Ile
NM_001320121.1:c.994G>A VV NP_001307050.1:p.Val332Ile
NM_001320122.1:c.994G>A VV NP_001307051.1:p.Val332Ile
ENST00000449260.6:c.994G>A ENSP00000402758.2:p.Val332Ile
ENST00000546543.5:c.847G>A ENSP00000446662.1:p.Val283Ile
ENST00000547137.5:c.832G>A ENSP00000448849.1:p.Val278Ile
ENST00000548493.5:c.994G>A ENSP00000447374.1:p.Val332Ile
ENST00000548747.5:c.994G>A ENSP00000448828.1:p.Val332Ile
ENST00000548803.5:c.547G>A ENSP00000447732.1:p.Val183Ile
ENST00000549404.5:n.656G>A
ENST00000549564.1:n.34G>A
ENST00000550447.5:c.358+1164G>A ENSP00000448029.1:p.=
ENST00000550464.5:c.736G>A ENSP00000450036.1:p.Val246Ile
ENST00000552882.5:c.994G>A ENSP00000449690.1:p.Val332Ile
ENST00000556802.1:n.730G>A