Canonical Allele Identifier: CA359158689
Gene: MTRR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.7891375A>T , CM000667.2:g.7891375A>T GRCh38
NC_000005.9:g.7891488A>T , CM000667.1:g.7891488A>T GRCh37
NC_000005.8:g.7944488A>T NCBI36
NG_008856.1:g.27272A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000440940.7:c.1331A>T MANE Select ENSP00000402510.2:p.His444Leu
ENST00000264668.6:c.1412A>T ENSP00000264668.2:p.His471Leu
ENST00000440940.6:c.1331A>T ENSP00000402510.2:p.His444Leu
ENST00000507202.1:n.7A>T
ENST00000507414.1:n.71A>T
ENST00000508101.5:n.571A>T
ENST00000510525.5:c.1267A>T
ENST00000511461.5:c.1244A>T
ENST00000512311.5:n.310A>T
ENST00000513439.5:c.*1038A>T ENSP00000426710.1:n.*1038A>T
NM_002454.2:c.1331A>T NP_002445.2:p.His444Leu
NM_024010.2:c.1412A>T NP_076915.2:p.His471Leu
XM_011514043.1:c.1412A>T XP_011512345.1:p.His471Leu
XM_011514044.1:c.1331A>T XP_011512346.1:p.His444Leu
XR_241702.1:n.1345A>T
XR_241703.1:n.1338A>T
XR_925614.1:n.1457A>T
XR_925615.1:n.1609A>T
NM_001364440.1:c.1331A>T NP_001351369.1:p.His444Leu
NM_001364441.1:c.1331A>T NP_001351370.1:p.His444Leu
NM_001364442.1:c.1331A>T NP_001351371.1:p.His444Leu
NM_024010.3:c.1331A>T NP_076915.3:p.His444Leu
NR_134480.1:n.1454A>T
NR_134481.1:n.1379A>T
NR_134482.1:n.1314A>T
NR_157168.1:n.1384A>T
NR_157169.1:n.1244A>T
NR_157170.1:n.1410A>T
NR_157171.1:n.1267A>T
NR_157172.1:n.1181A>T
NR_157173.1:n.1421A>T
NR_157174.1:n.1422A>T
NR_157175.1:n.1576A>T
NR_157176.1:n.1739A>T
NR_157177.1:n.1419A>T
NR_157178.1:n.1447A>T
XM_024446063.1:c.1376A>T XP_024301831.1:p.His459Leu
XM_024446064.1:c.1331A>T XP_024301832.1:p.His444Leu
XR_001742071.1:n.1609A>T
XR_001742072.1:n.1586A>T
XR_001742074.1:n.1345A>T
XR_001742075.1:n.1497A>T
XR_001742076.1:n.1574A>T
XR_001742077.1:n.1597A>T
NM_001364440.2:c.1331A>T NP_001351369.1:p.His444Leu
NM_001364441.2:c.1331A>T NP_001351370.1:p.His444Leu
NM_001364442.2:c.1331A>T NP_001351371.1:p.His444Leu
NM_002454.3:c.1331A>T MANE Select NP_002445.2:p.His444Leu
NM_024010.4:c.1331A>T NP_076915.3:p.His444Leu
NR_134480.2:n.1410A>T
NR_134481.2:n.1335A>T
NR_134482.2:n.1270A>T
NR_157168.2:n.1384A>T
NR_157169.2:n.1244A>T
NR_157170.2:n.1410A>T
NR_157171.2:n.1267A>T
NR_157172.2:n.1181A>T
NR_157173.2:n.1421A>T
NR_157174.2:n.1422A>T
NR_157175.2:n.1576A>T
NR_157176.2:n.1739A>T
NR_157177.2:n.1419A>T
NR_157178.2:n.1447A>T