Canonical Allele Identifier: CA345384677
Gene: MTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236885209A>C , CM000663.2:g.236885209A>C GRCh38
NC_000001.10:g.237048509A>C , CM000663.1:g.237048509A>C GRCh37
NC_000001.9:g.235115132A>C NCBI36
NG_008959.1:g.94929A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000366577.10:c.2765A>C MANE Select ENSP00000355536.5:p.Glu922Ala
ENST00000535889.6:c.2612A>C ENSP00000441845.1:p.Glu871Ala
ENST00000650888.1:c.*1807A>C ENSP00000498393.1:n.*1807A>C
ENST00000651455.1:c.*1509A>C ENSP00000498963.1:n.*1509A>C
ENST00000674797.2:c.2417A>C ENSP00000502299.2:p.Glu806Ala
ENST00000679569.1:n.3079A>C
ENST00000679842.1:c.2576A>C ENSP00000506109.1:p.Glu859Ala
ENST00000680454.1:n.3209A>C
ENST00000681102.1:c.2585A>C ENSP00000505600.1:p.Glu862Ala
ENST00000681177.1:c.2327A>C ENSP00000506327.1:p.Glu776Ala
ENST00000681937.1:n.2959A>C
ENST00000366576.3:c.1427A>C ENSP00000355535.3:p.Glu476Ala
ENST00000366577.9:c.2765A>C ENSP00000355536.5:p.Glu922Ala
ENST00000535889.5:c.2612A>C ENSP00000441845.1:p.Glu871Ala
NM_000254.2:c.2765A>C NP_000245.2:p.Glu922Ala
NM_001291939.1:c.2612A>C NP_001278868.1:p.Glu871Ala
NM_001291940.1:c.1544A>C NP_001278869.1:p.Glu515Ala
XM_005273141.3:c.2762A>C XP_005273198.1:p.Glu921Ala
XM_006711769.2:c.2765A>C XP_006711832.1:p.Glu922Ala
XM_006711770.1:c.1829A>C XP_006711833.1:p.Glu610Ala
XM_011544193.1:c.2576A>C XP_011542495.1:p.Glu859Ala
XM_011544194.1:c.2933A>C XP_011542496.1:p.Glu978Ala
XM_005273141.5:c.2762A>C XP_005273198.1:p.Glu921Ala
XM_006711770.3:c.1829A>C XP_006711833.1:p.Glu610Ala
XM_011544194.3:c.2933A>C XP_011542496.1:p.Glu978Ala
XM_017001329.2:c.2780A>C XP_016856818.1:p.Glu927Ala
XM_017001330.2:c.2744A>C XP_016856819.1:p.Glu915Ala
NM_001291940.2:c.1544A>C NP_001278869.1:p.Glu515Ala
NM_000254.3:c.2765A>C MANE Select NP_000245.2:p.Glu922Ala