Canonical Allele Identifier: CA5416702
Community Standard Title: NM_001033855.3(DCLRE1C):c.741A>G (p.Thr247=)
Gene: DCLRE1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.14932893T>C , CM000672.2:g.14932893T>C GRCh38
NC_000010.10:g.14974892T>C , CM000672.1:g.14974892T>C GRCh37
NC_000010.9:g.15014898T>C NCBI36
NG_007276.1:g.26203A>G , LRG_54:g.26203A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001033855.3:c.741A>G MANE Select NP_001029027.1:p.Thr247=
ENST00000378278.7:c.741A>G MANE Select ENSP00000367527.2:p.Thr247=
NM_001033855.2:c.741A>G NP_001029027.1:p.Thr247=
NM_001033857.2:c.381A>G NP_001029029.1:p.Thr127=
NM_001033857.3:c.381A>G NP_001029029.1:p.Thr127=
NM_001033858.2:c.381A>G NP_001029030.1:p.Thr127=
NM_001033858.3:c.381A>G NP_001029030.1:p.Thr127=
NM_001289076.1:c.396A>G NP_001276005.1:p.Thr132=
NM_001289076.2:c.396A>G NP_001276005.1:p.Thr132=
NM_001289077.1:c.381A>G NP_001276006.1:p.Thr127=
NM_001289077.2:c.381A>G NP_001276006.1:p.Thr127=
NM_001289078.1:c.396A>G NP_001276007.1:p.Thr132=
NM_001289078.2:c.396A>G NP_001276007.1:p.Thr132=
NM_001289079.1:c.381A>G NP_001276008.1:p.Thr127=
NM_001289079.2:c.381A>G NP_001276008.1:p.Thr127=
NM_001350965.1:c.741A>G NP_001337894.1:p.Thr247=
NM_001350965.2:c.741A>G NP_001337894.1:p.Thr247=
NM_001350966.1:c.396A>G NP_001337895.1:p.Thr132=
NM_001350966.2:c.396A>G NP_001337895.1:p.Thr132=
NM_001350967.1:c.381A>G NP_001337896.1:p.Thr127=
NM_001350967.2:c.381A>G NP_001337896.1:p.Thr127=
NM_022487.3:c.396A>G NP_071932.2:p.Thr132=
NM_022487.4:c.396A>G NP_071932.2:p.Thr132=
NR_110297.1:n.1375A>G
NR_110297.2:n.1039A>G
NR_146960.1:n.1163A>G
NR_146961.1:n.1192A>G
NR_146961.2:n.856A>G
NR_146962.1:n.1163A>G
ENST00000357717.6:c.396A>G ENSP00000350349.2:p.Thr132=
ENST00000378241.6:c.*788A>G ENSP00000367487.3:n.*788A>G
ENST00000378246.6:c.396A>G ENSP00000367492.2:p.Thr132=
ENST00000378249.5:c.396A>G ENSP00000367496.1:p.Thr132=
ENST00000378254.5:c.381A>G ENSP00000367502.1:p.Thr127=
ENST00000378255.5:c.381A>G ENSP00000367503.1:p.Thr127=
ENST00000378258.5:c.381A>G ENSP00000367506.1:p.Thr127=
ENST00000378278.6:c.741A>G ENSP00000367527.2:p.Thr247=
ENST00000378289.8:c.741A>G ENSP00000367538.4:p.Thr247=
ENST00000396817.6:c.381A>G ENSP00000380030.2:p.Thr127=
ENST00000418843.5:c.303A>G ENSP00000391428.1:p.Thr101=
ENST00000456122.2:c.*927A>G ENSP00000413180.3:n.*927A>G
ENST00000489161.2:c.*519A>G ENSP00000513000.2:n.*519A>G
ENST00000492201.6:c.741A>G ENSP00000512999.1:p.Thr247=
ENST00000697047.1:c.741A>G ENSP00000513066.1:p.Thr247=
ENST00000697070.1:c.741A>G ENSP00000513085.1:p.Thr247=
ENST00000697071.1:c.*661A>G ENSP00000513086.1:n.*661A>G
ENST00000697072.1:c.741A>G ENSP00000513087.1:p.Thr247=
ENST00000697073.1:c.*519A>G ENSP00000513088.2:n.*519A>G
ENST00000697074.1:c.*519A>G ENSP00000513089.2:n.*519A>G
ENST00000697075.1:c.741A>G ENSP00000513090.1:p.Thr247=
ENST00000697076.1:c.741A>G ENSP00000513091.1:p.Thr247=
ENST00000697077.1:c.*452A>G ENSP00000513092.1:n.*452A>G
ENST00000697078.1:c.*448A>G ENSP00000513093.1:n.*448A>G
ENST00000697079.1:n.445A>G
ENST00000697080.1:c.*605A>G ENSP00000513094.1:n.*605A>G
ENST00000697081.1:c.*358A>G ENSP00000513095.1:n.*358A>G
ENST00000697082.1:c.*864+1487A>G ENSP00000513096.1:n.*864+1487A>G
ENST00000697083.1:c.*601A>G ENSP00000513097.1:n.*601A>G
ENST00000697084.1:c.741A>G ENSP00000513098.1:p.Thr247=
ENST00000697085.1:c.*508A>G ENSP00000513099.1:n.*508A>G
ENST00000697086.1:n.3178A>G
ENST00000697087.1:c.*661A>G ENSP00000513100.1:n.*661A>G
ENST00000697088.1:c.*358A>G ENSP00000513101.1:n.*358A>G
ENST00000697089.1:c.*661A>G ENSP00000513102.1:n.*661A>G
XM_006717491.2:c.396A>G XP_006717554.1:p.Thr132=
XM_006717491.4:c.396A>G XP_006717554.1:p.Thr132=
XM_011519616.1:c.396A>G XP_011517918.1:p.Thr132=
XM_011519617.1:c.396A>G XP_011517919.1:p.Thr132=
XM_011519618.1:c.396A>G XP_011517920.1:p.Thr132=
XM_011519619.1:c.381A>G XP_011517921.1:p.Thr127=
XM_011519620.1:c.741A>G XP_011517922.1:p.Thr247=
XM_011519620.3:c.741A>G XP_011517922.1:p.Thr247=
XM_011519621.1:c.741A>G XP_011517923.1:p.Thr247=
XM_011519621.2:c.741A>G XP_011517923.1:p.Thr247=
XM_017016557.1:c.396A>G XP_016872046.1:p.Thr132=
XM_017016558.1:c.381A>G XP_016872047.1:p.Thr127=
XM_024448134.1:c.381A>G XP_024303902.1:p.Thr127=
XM_024448135.1:c.396A>G XP_024303903.1:p.Thr132=
XR_001747185.2:n.1085A>G
XR_001747187.1:n.721A>G
XR_242702.2:n.838A>G
XR_930514.1:n.838A>G
XR_930515.1:n.838A>G
XR_930515.2:n.1085A>G