Canonical Allele Identifier: CA345383244
Gene: MTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236880826G>A , CM000663.2:g.236880826G>A GRCh38
NC_000001.10:g.237044126G>A , CM000663.1:g.237044126G>A GRCh37
NC_000001.9:g.235110749G>A NCBI36
NG_008959.1:g.90546G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366577.10:c.2666G>A MANE Select ENSP00000355536.5:p.Ser889Asn
ENST00000535889.6:c.2513G>A ENSP00000441845.1:p.Ser838Asn
ENST00000650888.1:c.*1708G>A ENSP00000498393.1:n.*1708G>A
ENST00000651455.1:c.*1410G>A ENSP00000498963.1:n.*1410G>A
ENST00000674797.2:c.2318G>A ENSP00000502299.2:p.Ser773Asn
ENST00000679569.1:n.2980G>A
ENST00000679842.1:c.2477G>A ENSP00000506109.1:p.Ser826Asn
ENST00000680454.1:n.3110G>A
ENST00000681102.1:c.2486G>A ENSP00000505600.1:p.Ser829Asn
ENST00000681177.1:c.2228G>A ENSP00000506327.1:p.Ser743Asn
ENST00000681937.1:n.2860G>A
ENST00000366576.3:c.1328G>A ENSP00000355535.3:p.Ser443Asn
ENST00000366577.9:c.2666G>A ENSP00000355536.5:p.Ser889Asn
ENST00000535889.5:c.2513G>A ENSP00000441845.1:p.Ser838Asn
NM_000254.2:c.2666G>A NP_000245.2:p.Ser889Asn
NM_001291939.1:c.2513G>A NP_001278868.1:p.Ser838Asn
NM_001291940.1:c.1445G>A NP_001278869.1:p.Ser482Asn
XM_005273141.3:c.2663G>A XP_005273198.1:p.Ser888Asn
XM_006711769.2:c.2666G>A XP_006711832.1:p.Ser889Asn
XM_006711770.1:c.1730G>A XP_006711833.1:p.Ser577Asn
XM_011544193.1:c.2477G>A XP_011542495.1:p.Ser826Asn
XM_011544194.1:c.2834G>A XP_011542496.1:p.Ser945Asn
XM_005273141.5:c.2663G>A XP_005273198.1:p.Ser888Asn
XM_006711770.3:c.1730G>A XP_006711833.1:p.Ser577Asn
XM_011544194.3:c.2834G>A XP_011542496.1:p.Ser945Asn
XM_017001329.2:c.2681G>A XP_016856818.1:p.Ser894Asn
XM_017001330.2:c.2645G>A XP_016856819.1:p.Ser882Asn
NM_001291940.2:c.1445G>A NP_001278869.1:p.Ser482Asn
NM_000254.3:c.2666G>A MANE Select NP_000245.2:p.Ser889Asn