Canonical Allele Identifier: CA345374779
Gene: MTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236852572T>A , CM000663.2:g.236852572T>A GRCh38
NC_000001.10:g.237015872T>A , CM000663.1:g.237015872T>A GRCh37
NC_000001.9:g.235082495T>A NCBI36
NG_008959.1:g.62292T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366577.10:c.1747T>A MANE Select ENSP00000355536.5:p.Ser583Thr
ENST00000535889.6:c.1747T>A ENSP00000441845.1:p.Ser583Thr
ENST00000650888.1:c.*789T>A ENSP00000498393.1:n.*789T>A
ENST00000651455.1:c.*491T>A ENSP00000498963.1:n.*491T>A
ENST00000674797.2:c.1399T>A ENSP00000502299.2:p.Ser467Thr
ENST00000679569.1:n.2061T>A
ENST00000679842.1:c.1747T>A ENSP00000506109.1:p.Ser583Thr
ENST00000680454.1:n.2191T>A
ENST00000681102.1:c.1567T>A ENSP00000505600.1:p.Ser523Thr
ENST00000681177.1:c.1516-7261T>A ENSP00000506327.1:n.1516-7261T>A
ENST00000681937.1:n.2148-7261T>A
ENST00000366576.3:c.409T>A ENSP00000355535.3:p.Ser137Thr
ENST00000366577.9:c.1747T>A ENSP00000355536.5:p.Ser583Thr
ENST00000463959.1:n.1766T>A
ENST00000535889.5:c.1747T>A ENSP00000441845.1:p.Ser583Thr
NM_000254.2:c.1747T>A NP_000245.2:p.Ser583Thr
NM_001291939.1:c.1747T>A NP_001278868.1:p.Ser583Thr
NM_001291940.1:c.526T>A NP_001278869.1:p.Ser176Thr
XM_005273141.3:c.1744T>A XP_005273198.1:p.Ser582Thr
XM_006711769.2:c.1747T>A XP_006711832.1:p.Ser583Thr
XM_006711770.1:c.811T>A XP_006711833.1:p.Ser271Thr
XM_011544193.1:c.1747T>A XP_011542495.1:p.Ser583Thr
XM_011544194.1:c.1915T>A XP_011542496.1:p.Ser639Thr
XM_005273141.5:c.1744T>A XP_005273198.1:p.Ser582Thr
XM_006711770.3:c.811T>A XP_006711833.1:p.Ser271Thr
XM_011544194.3:c.1915T>A XP_011542496.1:p.Ser639Thr
XM_017001329.2:c.1915T>A XP_016856818.1:p.Ser639Thr
XM_017001330.2:c.1915T>A XP_016856819.1:p.Ser639Thr
NM_001291940.2:c.526T>A NP_001278869.1:p.Ser176Thr
NM_000254.3:c.1747T>A MANE Select NP_000245.2:p.Ser583Thr