Canonical Allele Identifier: CA345384393
Gene: MTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236885137A>C , CM000663.2:g.236885137A>C GRCh38
NC_000001.10:g.237048437A>C , CM000663.1:g.237048437A>C GRCh37
NC_000001.9:g.235115060A>C NCBI36
NG_008959.1:g.94857A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366577.10:c.2693A>C MANE Select ENSP00000355536.5:p.Asp898Ala
ENST00000535889.6:c.2540A>C ENSP00000441845.1:p.Asp847Ala
ENST00000650888.1:c.*1735A>C ENSP00000498393.1:n.*1735A>C
ENST00000651455.1:c.*1437A>C ENSP00000498963.1:n.*1437A>C
ENST00000674797.2:c.2345A>C ENSP00000502299.2:p.Asp782Ala
ENST00000679569.1:n.3007A>C
ENST00000679842.1:c.2504A>C ENSP00000506109.1:p.Asp835Ala
ENST00000680454.1:n.3137A>C
ENST00000681102.1:c.2513A>C ENSP00000505600.1:p.Asp838Ala
ENST00000681177.1:c.2255A>C ENSP00000506327.1:p.Asp752Ala
ENST00000681937.1:n.2887A>C
ENST00000366576.3:c.1355A>C ENSP00000355535.3:p.Asp452Ala
ENST00000366577.9:c.2693A>C ENSP00000355536.5:p.Asp898Ala
ENST00000535889.5:c.2540A>C ENSP00000441845.1:p.Asp847Ala
NM_000254.2:c.2693A>C NP_000245.2:p.Asp898Ala
NM_001291939.1:c.2540A>C NP_001278868.1:p.Asp847Ala
NM_001291940.1:c.1472A>C NP_001278869.1:p.Asp491Ala
XM_005273141.3:c.2690A>C XP_005273198.1:p.Asp897Ala
XM_006711769.2:c.2693A>C XP_006711832.1:p.Asp898Ala
XM_006711770.1:c.1757A>C XP_006711833.1:p.Asp586Ala
XM_011544193.1:c.2504A>C XP_011542495.1:p.Asp835Ala
XM_011544194.1:c.2861A>C XP_011542496.1:p.Asp954Ala
XM_005273141.5:c.2690A>C XP_005273198.1:p.Asp897Ala
XM_006711770.3:c.1757A>C XP_006711833.1:p.Asp586Ala
XM_011544194.3:c.2861A>C XP_011542496.1:p.Asp954Ala
XM_017001329.2:c.2708A>C XP_016856818.1:p.Asp903Ala
XM_017001330.2:c.2672A>C XP_016856819.1:p.Asp891Ala
NM_001291940.2:c.1472A>C NP_001278869.1:p.Asp491Ala
NM_000254.3:c.2693A>C MANE Select NP_000245.2:p.Asp898Ala