Canonical Allele Identifier: CA345391459
Gene: MTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236829212A>C , CM000663.2:g.236829212A>C GRCh38
NC_000001.10:g.236992512A>C , CM000663.1:g.236992512A>C GRCh37
NC_000001.9:g.235059135A>C NCBI36
NG_008959.1:g.38932A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366577.10:c.1019A>C MANE Select ENSP00000355536.5:p.Asn340Thr
ENST00000535889.6:c.1019A>C ENSP00000441845.1:p.Asn340Thr
ENST00000650888.1:c.*61A>C ENSP00000498393.1:n.*61A>C
ENST00000651455.1:c.1019A>C ENSP00000498963.1:p.Asn340Thr
ENST00000674797.2:c.671A>C ENSP00000502299.2:p.Asn224Thr
ENST00000679569.1:n.1333A>C
ENST00000679842.1:c.1019A>C ENSP00000506109.1:p.Asn340Thr
ENST00000680454.1:n.1463A>C
ENST00000681102.1:c.1019A>C ENSP00000505600.1:p.Asn340Thr
ENST00000681177.1:c.1019A>C ENSP00000506327.1:p.Asn340Thr
ENST00000681937.1:n.1651A>C
ENST00000366577.9:c.1019A>C ENSP00000355536.5:p.Asn340Thr
ENST00000463959.1:n.1038A>C
ENST00000535889.5:c.1019A>C ENSP00000441845.1:p.Asn340Thr
NM_000254.2:c.1019A>C NP_000245.2:p.Asn340Thr
NM_001291939.1:c.1019A>C NP_001278868.1:p.Asn340Thr
NM_001291940.1:c.-90A>C NP_001278869.1:n.-90A>C
XM_005273141.3:c.1016A>C XP_005273198.1:p.Asn339Thr
XM_006711769.2:c.1019A>C XP_006711832.1:p.Asn340Thr
XM_006711770.1:c.83A>C XP_006711833.1:p.Asn28Thr
XM_011544193.1:c.1019A>C XP_011542495.1:p.Asn340Thr
XM_011544194.1:c.1187A>C XP_011542496.1:p.Asn396Thr
XM_005273141.5:c.1016A>C XP_005273198.1:p.Asn339Thr
XM_006711770.3:c.83A>C XP_006711833.1:p.Asn28Thr
XM_011544194.3:c.1187A>C XP_011542496.1:p.Asn396Thr
XM_017001329.2:c.1187A>C XP_016856818.1:p.Asn396Thr
XM_017001330.2:c.1187A>C XP_016856819.1:p.Asn396Thr
NM_001291940.2:c.-90A>C NP_001278869.1:n.-90A>C
NM_000254.3:c.1019A>C MANE Select NP_000245.2:p.Asn340Thr