Canonical Allele Identifier: CA359157794
Gene: MTRR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.7885729A>C , CM000667.2:g.7885729A>C GRCh38
NC_000005.9:g.7885842A>C , CM000667.1:g.7885842A>C GRCh37
NC_000005.8:g.7938842A>C NCBI36
NG_008856.1:g.21626A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000440940.7:c.932A>C MANE Select ENSP00000402510.2:p.Asp311Ala
ENST00000264668.6:c.1013A>C ENSP00000264668.2:p.Asp338Ala
ENST00000440940.6:c.932A>C ENSP00000402510.2:p.Asp311Ala
ENST00000508101.5:n.172A>C
ENST00000510525.5:c.957A>C
ENST00000511461.5:c.845A>C
ENST00000513439.5:c.*639A>C ENSP00000426710.1:n.*639A>C
NM_002454.2:c.932A>C NP_002445.2:p.Asp311Ala
NM_024010.2:c.1013A>C NP_076915.2:p.Asp338Ala
XM_006714474.2:c.1013A>C XP_006714537.1:p.Asp338Ala
XM_011514043.1:c.1013A>C XP_011512345.1:p.Asp338Ala
XM_011514044.1:c.932A>C XP_011512346.1:p.Asp311Ala
XM_011514045.1:c.1153A>C XP_011512347.1:p.Met385Leu
XR_241702.1:n.1035A>C
XR_241703.1:n.1028A>C
XR_925614.1:n.1035A>C
XR_925615.1:n.1035A>C
NM_001364440.1:c.932A>C NP_001351369.1:p.Asp311Ala
NM_001364441.1:c.932A>C NP_001351370.1:p.Asp311Ala
NM_001364442.1:c.932A>C NP_001351371.1:p.Asp311Ala
NM_024010.3:c.932A>C NP_076915.3:p.Asp311Ala
NR_134480.1:n.1055A>C
NR_134481.1:n.1069A>C
NR_134482.1:n.915A>C
NR_157168.1:n.985A>C
NR_157169.1:n.845A>C
NR_157170.1:n.1011A>C
NR_157171.1:n.845A>C
NR_157172.1:n.871A>C
NR_157173.1:n.999A>C
NR_157174.1:n.871A>C
NR_157175.1:n.1025A>C
NR_157176.1:n.1165A>C
NR_157177.1:n.1020A>C
NR_157178.1:n.1025A>C
XM_024446063.1:c.977A>C XP_024301831.1:p.Asp326Ala
XM_024446064.1:c.932A>C XP_024301832.1:p.Asp311Ala
XR_001742071.1:n.1035A>C
XR_001742072.1:n.1035A>C
XR_001742074.1:n.1035A>C
XR_001742075.1:n.1035A>C
XR_001742076.1:n.1175A>C
XR_001742077.1:n.1175A>C
NM_001364440.2:c.932A>C NP_001351369.1:p.Asp311Ala
NM_001364441.2:c.932A>C NP_001351370.1:p.Asp311Ala
NM_001364442.2:c.932A>C NP_001351371.1:p.Asp311Ala
NM_002454.3:c.932A>C MANE Select NP_002445.2:p.Asp311Ala
NM_024010.4:c.932A>C NP_076915.3:p.Asp311Ala
NR_134480.2:n.1011A>C
NR_134481.2:n.1025A>C
NR_134482.2:n.871A>C
NR_157168.2:n.985A>C
NR_157169.2:n.845A>C
NR_157170.2:n.1011A>C
NR_157171.2:n.845A>C
NR_157172.2:n.871A>C
NR_157173.2:n.999A>C
NR_157174.2:n.871A>C
NR_157175.2:n.1025A>C
NR_157176.2:n.1165A>C
NR_157177.2:n.1020A>C
NR_157178.2:n.1025A>C