Canonical Allele Identifier: CA345391538
Gene: MTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236829220C>A , CM000663.2:g.236829220C>A GRCh38
NC_000001.10:g.236992520C>A , CM000663.1:g.236992520C>A GRCh37
NC_000001.9:g.235059143C>A NCBI36
NG_008959.1:g.38940C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366577.10:c.1027C>A MANE Select ENSP00000355536.5:p.Pro343Thr
ENST00000535889.6:c.1027C>A ENSP00000441845.1:p.Pro343Thr
ENST00000650888.1:c.*69C>A ENSP00000498393.1:n.*69C>A
ENST00000651455.1:c.1027C>A ENSP00000498963.1:p.Pro343Thr
ENST00000674797.2:c.679C>A ENSP00000502299.2:p.Pro227Thr
ENST00000679569.1:n.1341C>A
ENST00000679842.1:c.1027C>A ENSP00000506109.1:p.Pro343Thr
ENST00000680454.1:n.1471C>A
ENST00000681102.1:c.1027C>A ENSP00000505600.1:p.Pro343Thr
ENST00000681177.1:c.1027C>A ENSP00000506327.1:p.Pro343Thr
ENST00000681937.1:n.1659C>A
ENST00000366577.9:c.1027C>A ENSP00000355536.5:p.Pro343Thr
ENST00000463959.1:n.1046C>A
ENST00000535889.5:c.1027C>A ENSP00000441845.1:p.Pro343Thr
NM_000254.2:c.1027C>A NP_000245.2:p.Pro343Thr
NM_001291939.1:c.1027C>A NP_001278868.1:p.Pro343Thr
NM_001291940.1:c.-82C>A NP_001278869.1:n.-82C>A
XM_005273141.3:c.1024C>A XP_005273198.1:p.Pro342Thr
XM_006711769.2:c.1027C>A XP_006711832.1:p.Pro343Thr
XM_006711770.1:c.91C>A XP_006711833.1:p.Pro31Thr
XM_011544193.1:c.1027C>A XP_011542495.1:p.Pro343Thr
XM_011544194.1:c.1195C>A XP_011542496.1:p.Pro399Thr
XM_005273141.5:c.1024C>A XP_005273198.1:p.Pro342Thr
XM_006711770.3:c.91C>A XP_006711833.1:p.Pro31Thr
XM_011544194.3:c.1195C>A XP_011542496.1:p.Pro399Thr
XM_017001329.2:c.1195C>A XP_016856818.1:p.Pro399Thr
XM_017001330.2:c.1195C>A XP_016856819.1:p.Pro399Thr
NM_001291940.2:c.-82C>A NP_001278869.1:n.-82C>A
NM_000254.3:c.1027C>A MANE Select NP_000245.2:p.Pro343Thr