Canonical Allele Identifier: CA345384642
Gene: MTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236885204T>G , CM000663.2:g.236885204T>G GRCh38
NC_000001.10:g.237048504T>G , CM000663.1:g.237048504T>G GRCh37
NC_000001.9:g.235115127T>G NCBI36
NG_008959.1:g.94924T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000366577.10:c.2760T>G MANE Select ENSP00000355536.5:p.His920Gln
ENST00000535889.6:c.2607T>G ENSP00000441845.1:p.His869Gln
ENST00000650888.1:c.*1802T>G ENSP00000498393.1:n.*1802T>G
ENST00000651455.1:c.*1504T>G ENSP00000498963.1:n.*1504T>G
ENST00000674797.2:c.2412T>G ENSP00000502299.2:p.His804Gln
ENST00000679569.1:n.3074T>G
ENST00000679842.1:c.2571T>G ENSP00000506109.1:p.His857Gln
ENST00000680454.1:n.3204T>G
ENST00000681102.1:c.2580T>G ENSP00000505600.1:p.His860Gln
ENST00000681177.1:c.2322T>G ENSP00000506327.1:p.His774Gln
ENST00000681937.1:n.2954T>G
ENST00000366576.3:c.1422T>G ENSP00000355535.3:p.His474Gln
ENST00000366577.9:c.2760T>G ENSP00000355536.5:p.His920Gln
ENST00000535889.5:c.2607T>G ENSP00000441845.1:p.His869Gln
NM_000254.2:c.2760T>G NP_000245.2:p.His920Gln
NM_001291939.1:c.2607T>G NP_001278868.1:p.His869Gln
NM_001291940.1:c.1539T>G NP_001278869.1:p.His513Gln
XM_005273141.3:c.2757T>G XP_005273198.1:p.His919Gln
XM_006711769.2:c.2760T>G XP_006711832.1:p.His920Gln
XM_006711770.1:c.1824T>G XP_006711833.1:p.His608Gln
XM_011544193.1:c.2571T>G XP_011542495.1:p.His857Gln
XM_011544194.1:c.2928T>G XP_011542496.1:p.His976Gln
XM_005273141.5:c.2757T>G XP_005273198.1:p.His919Gln
XM_006711770.3:c.1824T>G XP_006711833.1:p.His608Gln
XM_011544194.3:c.2928T>G XP_011542496.1:p.His976Gln
XM_017001329.2:c.2775T>G XP_016856818.1:p.His925Gln
XM_017001330.2:c.2739T>G XP_016856819.1:p.His913Gln
NM_001291940.2:c.1539T>G NP_001278869.1:p.His513Gln
NM_000254.3:c.2760T>G MANE Select NP_000245.2:p.His920Gln