Canonical Allele Identifier: CA345383343
Gene: MTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236880838T>A , CM000663.2:g.236880838T>A GRCh38
NC_000001.10:g.237044138T>A , CM000663.1:g.237044138T>A GRCh37
NC_000001.9:g.235110761T>A NCBI36
NG_008959.1:g.90558T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000366577.10:c.2676+2T>A MANE Select ENSP00000355536.5:n.2676+2T>A
ENST00000535889.6:c.2523+2T>A ENSP00000441845.1:n.2523+2T>A
ENST00000650888.1:c.*1718+2T>A ENSP00000498393.1:n.*1718+2T>A
ENST00000651455.1:c.*1420+2T>A ENSP00000498963.1:n.*1420+2T>A
ENST00000674797.2:c.2328+2T>A ENSP00000502299.2:n.2328+2T>A
ENST00000679569.1:n.2990+2T>A
ENST00000679842.1:c.2487+2T>A ENSP00000506109.1:n.2487+2T>A
ENST00000680454.1:n.3120+2T>A
ENST00000681102.1:c.2496+2T>A ENSP00000505600.1:n.2496+2T>A
ENST00000681177.1:c.2238+2T>A ENSP00000506327.1:n.2238+2T>A
ENST00000681937.1:n.2870+2T>A
ENST00000366576.3:c.1338+2T>A ENSP00000355535.3:n.1338+2T>A
ENST00000366577.9:c.2676+2T>A ENSP00000355536.5:n.2676+2T>A
ENST00000535889.5:c.2523+2T>A ENSP00000441845.1:n.2523+2T>A
NM_000254.2:c.2676+2T>A NP_000245.2:n.2676+2T>A
NM_001291939.1:c.2523+2T>A NP_001278868.1:n.2523+2T>A
NM_001291940.1:c.1455+2T>A NP_001278869.1:n.1455+2T>A
XM_005273141.3:c.2673+2T>A XP_005273198.1:n.2673+2T>A
XM_006711769.2:c.2676+2T>A XP_006711832.1:n.2676+2T>A
XM_006711770.1:c.1740+2T>A XP_006711833.1:n.1740+2T>A
XM_011544193.1:c.2487+2T>A XP_011542495.1:n.2487+2T>A
XM_011544194.1:c.2844+2T>A XP_011542496.1:n.2844+2T>A
XM_005273141.5:c.2673+2T>A XP_005273198.1:n.2673+2T>A
XM_006711770.3:c.1740+2T>A XP_006711833.1:n.1740+2T>A
XM_011544194.3:c.2844+2T>A XP_011542496.1:n.2844+2T>A
XM_017001329.2:c.2691+2T>A XP_016856818.1:n.2691+2T>A
XM_017001330.2:c.2655+2T>A XP_016856819.1:n.2655+2T>A
NM_001291940.2:c.1455+2T>A NP_001278869.1:n.1455+2T>A
NM_000254.3:c.2676+2T>A MANE Select NP_000245.2:n.2676+2T>A