Canonical Allele Identifier: CA345391470
Gene: MTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236829214T>A , CM000663.2:g.236829214T>A GRCh38
NC_000001.10:g.236992514T>A , CM000663.1:g.236992514T>A GRCh37
NC_000001.9:g.235059137T>A NCBI36
NG_008959.1:g.38934T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366577.10:c.1021T>A MANE Select ENSP00000355536.5:p.Cys341Ser
ENST00000535889.6:c.1021T>A ENSP00000441845.1:p.Cys341Ser
ENST00000650888.1:c.*63T>A ENSP00000498393.1:n.*63T>A
ENST00000651455.1:c.1021T>A ENSP00000498963.1:p.Cys341Ser
ENST00000674797.2:c.673T>A ENSP00000502299.2:p.Cys225Ser
ENST00000679569.1:n.1335T>A
ENST00000679842.1:c.1021T>A ENSP00000506109.1:p.Cys341Ser
ENST00000680454.1:n.1465T>A
ENST00000681102.1:c.1021T>A ENSP00000505600.1:p.Cys341Ser
ENST00000681177.1:c.1021T>A ENSP00000506327.1:p.Cys341Ser
ENST00000681937.1:n.1653T>A
ENST00000366577.9:c.1021T>A ENSP00000355536.5:p.Cys341Ser
ENST00000463959.1:n.1040T>A
ENST00000535889.5:c.1021T>A ENSP00000441845.1:p.Cys341Ser
NM_000254.2:c.1021T>A NP_000245.2:p.Cys341Ser
NM_001291939.1:c.1021T>A NP_001278868.1:p.Cys341Ser
NM_001291940.1:c.-88T>A NP_001278869.1:n.-88T>A
XM_005273141.3:c.1018T>A XP_005273198.1:p.Cys340Ser
XM_006711769.2:c.1021T>A XP_006711832.1:p.Cys341Ser
XM_006711770.1:c.85T>A XP_006711833.1:p.Cys29Ser
XM_011544193.1:c.1021T>A XP_011542495.1:p.Cys341Ser
XM_011544194.1:c.1189T>A XP_011542496.1:p.Cys397Ser
XM_005273141.5:c.1018T>A XP_005273198.1:p.Cys340Ser
XM_006711770.3:c.85T>A XP_006711833.1:p.Cys29Ser
XM_011544194.3:c.1189T>A XP_011542496.1:p.Cys397Ser
XM_017001329.2:c.1189T>A XP_016856818.1:p.Cys397Ser
XM_017001330.2:c.1189T>A XP_016856819.1:p.Cys397Ser
NM_001291940.2:c.-88T>A NP_001278869.1:n.-88T>A
NM_000254.3:c.1021T>A MANE Select NP_000245.2:p.Cys341Ser