Canonical Allele Identifier: CA359157845
Gene: MTRR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.7885753A>T , CM000667.2:g.7885753A>T GRCh38
NC_000005.9:g.7885866A>T , CM000667.1:g.7885866A>T GRCh37
NC_000005.8:g.7938866A>T NCBI36
NG_008856.1:g.21650A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000440940.7:c.956A>T MANE Select ENSP00000402510.2:p.Asn319Ile
ENST00000264668.6:c.1037A>T ENSP00000264668.2:p.Asn346Ile
ENST00000440940.6:c.956A>T ENSP00000402510.2:p.Asn319Ile
ENST00000508101.5:n.196A>T
ENST00000510525.5:c.981A>T
ENST00000511461.5:c.869A>T
ENST00000513439.5:c.*663A>T ENSP00000426710.1:n.*663A>T
NM_002454.2:c.956A>T NP_002445.2:p.Asn319Ile
NM_024010.2:c.1037A>T NP_076915.2:p.Asn346Ile
XM_006714474.2:c.1037A>T XP_006714537.1:p.Asn346Ile
XM_011514043.1:c.1037A>T XP_011512345.1:p.Asn346Ile
XM_011514044.1:c.956A>T XP_011512346.1:p.Asn319Ile
XM_011514045.1:c.*10A>T XP_011512347.1:n.*10A>T
XR_241702.1:n.1059A>T
XR_241703.1:n.1052A>T
XR_925614.1:n.1059A>T
XR_925615.1:n.1059A>T
NM_001364440.1:c.956A>T NP_001351369.1:p.Asn319Ile
NM_001364441.1:c.956A>T NP_001351370.1:p.Asn319Ile
NM_001364442.1:c.956A>T NP_001351371.1:p.Asn319Ile
NM_024010.3:c.956A>T NP_076915.3:p.Asn319Ile
NR_134480.1:n.1079A>T
NR_134481.1:n.1093A>T
NR_134482.1:n.939A>T
NR_157168.1:n.1009A>T
NR_157169.1:n.869A>T
NR_157170.1:n.1035A>T
NR_157171.1:n.869A>T
NR_157172.1:n.895A>T
NR_157173.1:n.1023A>T
NR_157174.1:n.895A>T
NR_157175.1:n.1049A>T
NR_157176.1:n.1189A>T
NR_157177.1:n.1044A>T
NR_157178.1:n.1049A>T
XM_024446063.1:c.1001A>T XP_024301831.1:p.Asn334Ile
XM_024446064.1:c.956A>T XP_024301832.1:p.Asn319Ile
XR_001742071.1:n.1059A>T
XR_001742072.1:n.1059A>T
XR_001742074.1:n.1059A>T
XR_001742075.1:n.1059A>T
XR_001742076.1:n.1199A>T
XR_001742077.1:n.1199A>T
NM_001364440.2:c.956A>T NP_001351369.1:p.Asn319Ile
NM_001364441.2:c.956A>T NP_001351370.1:p.Asn319Ile
NM_001364442.2:c.956A>T NP_001351371.1:p.Asn319Ile
NM_002454.3:c.956A>T MANE Select NP_002445.2:p.Asn319Ile
NM_024010.4:c.956A>T NP_076915.3:p.Asn319Ile
NR_134480.2:n.1035A>T
NR_134481.2:n.1049A>T
NR_134482.2:n.895A>T
NR_157168.2:n.1009A>T
NR_157169.2:n.869A>T
NR_157170.2:n.1035A>T
NR_157171.2:n.869A>T
NR_157172.2:n.895A>T
NR_157173.2:n.1023A>T
NR_157174.2:n.895A>T
NR_157175.2:n.1049A>T
NR_157176.2:n.1189A>T
NR_157177.2:n.1044A>T
NR_157178.2:n.1049A>T