Canonical Allele Identifier: CA1474561
Gene: MTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236889244A>G , CM000663.2:g.236889244A>G GRCh38
NC_000001.10:g.237052544A>G , CM000663.1:g.237052544A>G GRCh37
NC_000001.9:g.235119167A>G NCBI36
NG_008959.1:g.98964A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366577.10:c.2915A>G MANE Select ENSP00000355536.5:p.Tyr972Cys
ENST00000535889.6:c.2762A>G ENSP00000441845.1:p.Tyr921Cys
ENST00000650888.1:c.*1957A>G ENSP00000498393.1:n.*1957A>G
ENST00000651455.1:c.*1659A>G ENSP00000498963.1:n.*1659A>G
ENST00000674797.2:c.2567A>G ENSP00000502299.2:p.Tyr856Cys
ENST00000679569.1:n.6042A>G
ENST00000679842.1:c.2726A>G ENSP00000506109.1:p.Tyr909Cys
ENST00000680454.1:n.6172A>G
ENST00000681102.1:c.2735A>G ENSP00000505600.1:p.Tyr912Cys
ENST00000681177.1:c.2477A>G ENSP00000506327.1:p.Tyr826Cys
ENST00000681937.1:n.3109A>G
ENST00000366576.3:c.1577A>G ENSP00000355535.3:p.Tyr526Cys
ENST00000366577.9:c.2915A>G ENSP00000355536.5:p.Tyr972Cys
ENST00000535889.5:c.2762A>G ENSP00000441845.1:p.Tyr921Cys
NM_000254.2:c.2915A>G NP_000245.2:p.Tyr972Cys
NM_001291939.1:c.2762A>G NP_001278868.1:p.Tyr921Cys
NM_001291940.1:c.1694A>G NP_001278869.1:p.Tyr565Cys
XM_005273141.3:c.2912A>G XP_005273198.1:p.Tyr971Cys
XM_006711769.2:c.2915A>G XP_006711832.1:p.Tyr972Cys
XM_006711770.1:c.1979A>G XP_006711833.1:p.Tyr660Cys
XM_011544193.1:c.2726A>G XP_011542495.1:p.Tyr909Cys
XM_011544194.1:c.3083A>G XP_011542496.1:p.Tyr1028Cys
XM_005273141.5:c.2912A>G XP_005273198.1:p.Tyr971Cys
XM_006711770.3:c.1979A>G XP_006711833.1:p.Tyr660Cys
XM_011544194.3:c.3083A>G XP_011542496.1:p.Tyr1028Cys
XM_017001329.2:c.2930A>G XP_016856818.1:p.Tyr977Cys
XM_017001330.2:c.2894A>G XP_016856819.1:p.Tyr965Cys
NM_001291940.2:c.1694A>G NP_001278869.1:p.Tyr565Cys
NM_000254.3:c.2915A>G MANE Select NP_000245.2:p.Tyr972Cys