Canonical Allele Identifier: CA359157791
Gene: MTRR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.7885728G>A , CM000667.2:g.7885728G>A GRCh38
NC_000005.9:g.7885841G>A , CM000667.1:g.7885841G>A GRCh37
NC_000005.8:g.7938841G>A NCBI36
NG_008856.1:g.21625G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000440940.7:c.931G>A MANE Select ENSP00000402510.2:p.Asp311Asn
ENST00000264668.6:c.1012G>A ENSP00000264668.2:p.Asp338Asn
ENST00000440940.6:c.931G>A ENSP00000402510.2:p.Asp311Asn
ENST00000508101.5:n.171G>A
ENST00000510525.5:c.956G>A
ENST00000511461.5:c.844G>A
ENST00000513439.5:c.*638G>A ENSP00000426710.1:n.*638G>A
NM_002454.2:c.931G>A NP_002445.2:p.Asp311Asn
NM_024010.2:c.1012G>A NP_076915.2:p.Asp338Asn
XM_006714474.2:c.1012G>A XP_006714537.1:p.Asp338Asn
XM_011514043.1:c.1012G>A XP_011512345.1:p.Asp338Asn
XM_011514044.1:c.931G>A XP_011512346.1:p.Asp311Asn
XM_011514045.1:c.1152G>A XP_011512347.1:p.Glu384=
XR_241702.1:n.1034G>A
XR_241703.1:n.1027G>A
XR_925614.1:n.1034G>A
XR_925615.1:n.1034G>A
NM_001364440.1:c.931G>A NP_001351369.1:p.Asp311Asn
NM_001364441.1:c.931G>A NP_001351370.1:p.Asp311Asn
NM_001364442.1:c.931G>A NP_001351371.1:p.Asp311Asn
NM_024010.3:c.931G>A NP_076915.3:p.Asp311Asn
NR_134480.1:n.1054G>A
NR_134481.1:n.1068G>A
NR_134482.1:n.914G>A
NR_157168.1:n.984G>A
NR_157169.1:n.844G>A
NR_157170.1:n.1010G>A
NR_157171.1:n.844G>A
NR_157172.1:n.870G>A
NR_157173.1:n.998G>A
NR_157174.1:n.870G>A
NR_157175.1:n.1024G>A
NR_157176.1:n.1164G>A
NR_157177.1:n.1019G>A
NR_157178.1:n.1024G>A
XM_024446063.1:c.976G>A XP_024301831.1:p.Asp326Asn
XM_024446064.1:c.931G>A XP_024301832.1:p.Asp311Asn
XR_001742071.1:n.1034G>A
XR_001742072.1:n.1034G>A
XR_001742074.1:n.1034G>A
XR_001742075.1:n.1034G>A
XR_001742076.1:n.1174G>A
XR_001742077.1:n.1174G>A
NM_001364440.2:c.931G>A NP_001351369.1:p.Asp311Asn
NM_001364441.2:c.931G>A NP_001351370.1:p.Asp311Asn
NM_001364442.2:c.931G>A NP_001351371.1:p.Asp311Asn
NM_002454.3:c.931G>A MANE Select NP_002445.2:p.Asp311Asn
NM_024010.4:c.931G>A NP_076915.3:p.Asp311Asn
NR_134480.2:n.1010G>A
NR_134481.2:n.1024G>A
NR_134482.2:n.870G>A
NR_157168.2:n.984G>A
NR_157169.2:n.844G>A
NR_157170.2:n.1010G>A
NR_157171.2:n.844G>A
NR_157172.2:n.870G>A
NR_157173.2:n.998G>A
NR_157174.2:n.870G>A
NR_157175.2:n.1024G>A
NR_157176.2:n.1164G>A
NR_157177.2:n.1019G>A
NR_157178.2:n.1024G>A