Canonical Allele Identifier: CA359156776
Gene: MTRR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.7877999C>T , CM000667.2:g.7877999C>T GRCh38
NC_000005.9:g.7878112C>T , CM000667.1:g.7878112C>T GRCh37
NC_000005.8:g.7931112C>T NCBI36
NG_008856.1:g.13896C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000440940.7:c.457C>T MANE Select ENSP00000402510.2:p.His153Tyr
ENST00000264668.6:c.538C>T ENSP00000264668.2:p.His180Tyr
ENST00000440940.6:c.457C>T ENSP00000402510.2:p.His153Tyr
ENST00000502509.5:n.672C>T
ENST00000502550.5:c.457C>T ENSP00000424599.1:p.His153Tyr
ENST00000508047.5:c.510C>T
ENST00000508890.1:n.270C>T
ENST00000510279.5:c.*126C>T ENSP00000427200.1:n.*126C>T
ENST00000510525.5:c.482C>T
ENST00000511461.5:c.370C>T
ENST00000513439.5:c.*164C>T ENSP00000426710.1:n.*164C>T
ENST00000514220.5:c.242C>T
ENST00000514369.5:c.*121C>T ENSP00000426132.1:n.*121C>T
NM_002454.2:c.457C>T NP_002445.2:p.His153Tyr
NM_024010.2:c.538C>T NP_076915.2:p.His180Tyr
XM_006714474.2:c.538C>T XP_006714537.1:p.His180Tyr
XM_011514043.1:c.538C>T XP_011512345.1:p.His180Tyr
XM_011514044.1:c.457C>T XP_011512346.1:p.His153Tyr
XM_011514045.1:c.538C>T XP_011512347.1:p.His180Tyr
XR_241702.1:n.560C>T
XR_241703.1:n.553C>T
XR_925614.1:n.560C>T
XR_925615.1:n.560C>T
NM_001364440.1:c.457C>T NP_001351369.1:p.His153Tyr
NM_001364441.1:c.457C>T NP_001351370.1:p.His153Tyr
NM_001364442.1:c.457C>T NP_001351371.1:p.His153Tyr
NM_024010.3:c.457C>T NP_076915.3:p.His153Tyr
NR_134480.1:n.580C>T
NR_134481.1:n.594C>T
NR_134482.1:n.440C>T
NR_157168.1:n.510C>T
NR_157169.1:n.370C>T
NR_157170.1:n.396C>T
NR_157171.1:n.370C>T
NR_157172.1:n.396C>T
NR_157173.1:n.524C>T
NR_157174.1:n.396C>T
NR_157175.1:n.550C>T
NR_157176.1:n.550C>T
NR_157177.1:n.545C>T
NR_157178.1:n.550C>T
XM_024446063.1:c.502C>T XP_024301831.1:p.His168Tyr
XM_024446064.1:c.457C>T XP_024301832.1:p.His153Tyr
XR_001742071.1:n.560C>T
XR_001742072.1:n.560C>T
XR_001742074.1:n.560C>T
XR_001742075.1:n.560C>T
XR_001742076.1:n.560C>T
XR_001742077.1:n.560C>T
NM_001364440.2:c.457C>T NP_001351369.1:p.His153Tyr
NM_001364441.2:c.457C>T NP_001351370.1:p.His153Tyr
NM_001364442.2:c.457C>T NP_001351371.1:p.His153Tyr
NM_002454.3:c.457C>T MANE Select NP_002445.2:p.His153Tyr
NM_024010.4:c.457C>T NP_076915.3:p.His153Tyr
NR_134480.2:n.536C>T
NR_134481.2:n.550C>T
NR_134482.2:n.396C>T
NR_157168.2:n.510C>T
NR_157169.2:n.370C>T
NR_157170.2:n.396C>T
NR_157171.2:n.370C>T
NR_157172.2:n.396C>T
NR_157173.2:n.524C>T
NR_157174.2:n.396C>T
NR_157175.2:n.550C>T
NR_157176.2:n.550C>T
NR_157177.2:n.545C>T
NR_157178.2:n.550C>T