Canonical Allele Identifier: CA359156770
Gene: MTRR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.7877997A>C , CM000667.2:g.7877997A>C GRCh38
NC_000005.9:g.7878110A>C , CM000667.1:g.7878110A>C GRCh37
NC_000005.8:g.7931110A>C NCBI36
NG_008856.1:g.13894A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000440940.7:c.455A>C MANE Select ENSP00000402510.2:p.Lys152Thr
ENST00000264668.6:c.536A>C ENSP00000264668.2:p.Lys179Thr
ENST00000440940.6:c.455A>C ENSP00000402510.2:p.Lys152Thr
ENST00000502509.5:n.670A>C
ENST00000502550.5:c.455A>C ENSP00000424599.1:p.Lys152Thr
ENST00000508047.5:c.508A>C
ENST00000508890.1:n.268A>C
ENST00000510279.5:c.*124A>C ENSP00000427200.1:n.*124A>C
ENST00000510525.5:c.480A>C
ENST00000511461.5:c.368A>C
ENST00000513439.5:c.*162A>C ENSP00000426710.1:n.*162A>C
ENST00000514220.5:c.240A>C
ENST00000514369.5:c.*119A>C ENSP00000426132.1:n.*119A>C
NM_002454.2:c.455A>C NP_002445.2:p.Lys152Thr
NM_024010.2:c.536A>C NP_076915.2:p.Lys179Thr
XM_006714474.2:c.536A>C XP_006714537.1:p.Lys179Thr
XM_011514043.1:c.536A>C XP_011512345.1:p.Lys179Thr
XM_011514044.1:c.455A>C XP_011512346.1:p.Lys152Thr
XM_011514045.1:c.536A>C XP_011512347.1:p.Lys179Thr
XR_241702.1:n.558A>C
XR_241703.1:n.551A>C
XR_925614.1:n.558A>C
XR_925615.1:n.558A>C
NM_001364440.1:c.455A>C NP_001351369.1:p.Lys152Thr
NM_001364441.1:c.455A>C NP_001351370.1:p.Lys152Thr
NM_001364442.1:c.455A>C NP_001351371.1:p.Lys152Thr
NM_024010.3:c.455A>C NP_076915.3:p.Lys152Thr
NR_134480.1:n.578A>C
NR_134481.1:n.592A>C
NR_134482.1:n.438A>C
NR_157168.1:n.508A>C
NR_157169.1:n.368A>C
NR_157170.1:n.394A>C
NR_157171.1:n.368A>C
NR_157172.1:n.394A>C
NR_157173.1:n.522A>C
NR_157174.1:n.394A>C
NR_157175.1:n.548A>C
NR_157176.1:n.548A>C
NR_157177.1:n.543A>C
NR_157178.1:n.548A>C
XM_024446063.1:c.500A>C XP_024301831.1:p.Lys167Thr
XM_024446064.1:c.455A>C XP_024301832.1:p.Lys152Thr
XR_001742071.1:n.558A>C
XR_001742072.1:n.558A>C
XR_001742074.1:n.558A>C
XR_001742075.1:n.558A>C
XR_001742076.1:n.558A>C
XR_001742077.1:n.558A>C
NM_001364440.2:c.455A>C NP_001351369.1:p.Lys152Thr
NM_001364441.2:c.455A>C NP_001351370.1:p.Lys152Thr
NM_001364442.2:c.455A>C NP_001351371.1:p.Lys152Thr
NM_002454.3:c.455A>C MANE Select NP_002445.2:p.Lys152Thr
NM_024010.4:c.455A>C NP_076915.3:p.Lys152Thr
NR_134480.2:n.534A>C
NR_134481.2:n.548A>C
NR_134482.2:n.394A>C
NR_157168.2:n.508A>C
NR_157169.2:n.368A>C
NR_157170.2:n.394A>C
NR_157171.2:n.368A>C
NR_157172.2:n.394A>C
NR_157173.2:n.522A>C
NR_157174.2:n.394A>C
NR_157175.2:n.548A>C
NR_157176.2:n.548A>C
NR_157177.2:n.543A>C
NR_157178.2:n.548A>C