Canonical Allele Identifier: CA359156961
Gene: MTRR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.7878090A>G , CM000667.2:g.7878090A>G GRCh38
NC_000005.9:g.7878203A>G , CM000667.1:g.7878203A>G GRCh37
NC_000005.8:g.7931203A>G NCBI36
NG_008856.1:g.13987A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000440940.7:c.548A>G MANE Select ENSP00000402510.2:p.Glu183Gly
ENST00000264668.6:c.629A>G ENSP00000264668.2:p.Glu210Gly
ENST00000440940.6:c.548A>G ENSP00000402510.2:p.Glu183Gly
ENST00000510279.5:c.*217A>G ENSP00000427200.1:n.*217A>G
ENST00000510525.5:c.573A>G
ENST00000511461.5:c.461A>G
ENST00000513439.5:c.*255A>G ENSP00000426710.1:n.*255A>G
ENST00000514220.5:c.333A>G
ENST00000514369.5:c.*212A>G ENSP00000426132.1:n.*212A>G
NM_002454.2:c.548A>G NP_002445.2:p.Glu183Gly
NM_024010.2:c.629A>G NP_076915.2:p.Glu210Gly
XM_006714474.2:c.629A>G XP_006714537.1:p.Glu210Gly
XM_011514043.1:c.629A>G XP_011512345.1:p.Glu210Gly
XM_011514044.1:c.548A>G XP_011512346.1:p.Glu183Gly
XM_011514045.1:c.629A>G XP_011512347.1:p.Glu210Gly
XR_241702.1:n.651A>G
XR_241703.1:n.644A>G
XR_925614.1:n.651A>G
XR_925615.1:n.651A>G
NM_001364440.1:c.548A>G NP_001351369.1:p.Glu183Gly
NM_001364441.1:c.548A>G NP_001351370.1:p.Glu183Gly
NM_001364442.1:c.548A>G NP_001351371.1:p.Glu183Gly
NM_024010.3:c.548A>G NP_076915.3:p.Glu183Gly
NR_134480.1:n.671A>G
NR_134481.1:n.685A>G
NR_134482.1:n.531A>G
NR_157168.1:n.601A>G
NR_157169.1:n.461A>G
NR_157170.1:n.487A>G
NR_157171.1:n.461A>G
NR_157172.1:n.487A>G
NR_157173.1:n.615A>G
NR_157174.1:n.487A>G
NR_157175.1:n.641A>G
NR_157176.1:n.641A>G
NR_157177.1:n.636A>G
NR_157178.1:n.641A>G
XM_024446063.1:c.593A>G XP_024301831.1:p.Glu198Gly
XM_024446064.1:c.548A>G XP_024301832.1:p.Glu183Gly
XR_001742071.1:n.651A>G
XR_001742072.1:n.651A>G
XR_001742074.1:n.651A>G
XR_001742075.1:n.651A>G
XR_001742076.1:n.651A>G
XR_001742077.1:n.651A>G
NM_001364440.2:c.548A>G NP_001351369.1:p.Glu183Gly
NM_001364441.2:c.548A>G NP_001351370.1:p.Glu183Gly
NM_001364442.2:c.548A>G NP_001351371.1:p.Glu183Gly
NM_002454.3:c.548A>G MANE Select NP_002445.2:p.Glu183Gly
NM_024010.4:c.548A>G NP_076915.3:p.Glu183Gly
NR_134480.2:n.627A>G
NR_134481.2:n.641A>G
NR_134482.2:n.487A>G
NR_157168.2:n.601A>G
NR_157169.2:n.461A>G
NR_157170.2:n.487A>G
NR_157171.2:n.461A>G
NR_157172.2:n.487A>G
NR_157173.2:n.615A>G
NR_157174.2:n.487A>G
NR_157175.2:n.641A>G
NR_157176.2:n.641A>G
NR_157177.2:n.636A>G
NR_157178.2:n.641A>G