LDH info

Canonical Allele Identifier: CA009219
Gene: MEN1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 16688
dbSNP Id: rs104894261

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64804588G>A , CM000673.2:g.64804588G>A GRCh38
NC_000011.9:g.64572060G>A , CM000673.1:g.64572060G>A GRCh37
NC_000011.8:g.64328636G>A NCBI36
NG_008929.1:g.11707C>T , LRG_509:g.11707C>T
NG_033040.1:g.3654C>T

Transcript Alleles

HGVS Amino-acid change
NM_000244.3:c.1594C>T , LRG_509t1:c.1594C>T NP_000235.2:p.Arg532Ter
NM_130799.2:c.1579C>T , LRG_509t2:c.1579C>T NP_570711.1:p.Arg527Ter
NM_130800.2:c.1594C>T VV NP_570712.1:p.Arg532Ter
NM_130801.2:c.1594C>T VV NP_570713.1:p.Arg532Ter
NM_130802.2:c.1594C>T VV NP_570714.1:p.Arg532Ter
NM_130803.2:c.1594C>T VV NP_570715.1:p.Arg532Ter
NM_130804.2:c.1594C>T VV NP_570716.1:p.Arg532Ter
XM_005274001.3:c.1579C>T XP_005274058.1:p.Arg527Ter
XM_011545040.1:c.1705C>T XP_011543342.1:p.Arg569Ter
XM_011545041.1:c.1705C>T XP_011543343.1:p.Arg569Ter
XM_011545042.1:c.1705C>T XP_011543344.1:p.Arg569Ter
XM_005274001.4:c.1579C>T XP_005274058.1:p.Arg527Ter
XM_011545041.2:c.1705C>T XP_011543343.1:p.Arg569Ter
XM_011545042.3:c.1705C>T XP_011543344.1:p.Arg569Ter
XM_017017765.1:c.1720C>T XP_016873254.1:p.Arg574Ter
XM_017017766.1:c.1720C>T XP_016873255.1:p.Arg574Ter
XM_017017767.2:c.1720C>T XP_016873256.1:p.Arg574Ter
XM_017017768.1:c.1720C>T XP_016873257.1:p.Arg574Ter
XM_017017769.1:c.1579C>T XP_016873258.1:p.Arg527Ter
XM_017017770.2:c.1579C>T XP_016873259.1:p.Arg527Ter
NM_001370251.1:c.1705C>T VV NP_001357180.1:p.Arg569Ter
NM_001370259.2:c.1579C>T VV MANE Preferred NP_001357188.2:p.Arg527Ter
NM_001370260.1:c.1579C>T VV NP_001357189.1:p.Arg527Ter
NM_001370261.1:c.1579C>T VV NP_001357190.1:p.Arg527Ter
NM_001370262.1:c.1474C>T VV NP_001357191.1:p.Arg492Ter
NM_001370263.1:c.1474C>T VV NP_001357192.1:p.Arg492Ter
ENST00000312049.10:c.1579C>T ENSP00000308975.6:p.Arg527Ter
ENST00000315422.8:c.1579C>T ENSP00000323747.4:p.Arg527Ter
ENST00000337652.5:c.1594C>T ENSP00000337088.1:p.Arg532Ter
ENST00000377313.5:c.1594C>T ENSP00000366530.1:p.Arg532Ter
ENST00000377316.6:c.1414C>T ENSP00000366533.1:p.Arg472Ter
ENST00000377321.5:c.1474C>T ENSP00000366538.1:p.Arg492Ter
ENST00000377326.7:c.1579C>T ENSP00000366543.3:p.Arg527Ter
ENST00000394374.6:c.1594C>T ENSP00000377899.2:p.Arg532Ter
ENST00000394376.5:c.1594C>T ENSP00000377901.1:p.Arg532Ter
ENST00000478548.1:n.1128C>T