Canonical Allele Identifier: CA359156714
Gene: MTRR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.7877970T>A , CM000667.2:g.7877970T>A GRCh38
NC_000005.9:g.7878083T>A , CM000667.1:g.7878083T>A GRCh37
NC_000005.8:g.7931083T>A NCBI36
NG_008856.1:g.13867T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000440940.7:c.428T>A MANE Select ENSP00000402510.2:p.Ile143Asn
ENST00000264668.6:c.509T>A ENSP00000264668.2:p.Ile170Asn
ENST00000440940.6:c.428T>A ENSP00000402510.2:p.Ile143Asn
ENST00000502509.5:n.643T>A
ENST00000502550.5:c.428T>A ENSP00000424599.1:p.Ile143Asn
ENST00000508047.5:c.481T>A
ENST00000508890.1:n.241T>A
ENST00000510279.5:c.*97T>A ENSP00000427200.1:n.*97T>A
ENST00000510525.5:c.453T>A
ENST00000511461.5:c.341T>A
ENST00000513439.5:c.*135T>A ENSP00000426710.1:n.*135T>A
ENST00000514220.5:c.213T>A
ENST00000514369.5:c.*92T>A ENSP00000426132.1:n.*92T>A
NM_002454.2:c.428T>A NP_002445.2:p.Ile143Asn
NM_024010.2:c.509T>A NP_076915.2:p.Ile170Asn
XM_006714474.2:c.509T>A XP_006714537.1:p.Ile170Asn
XM_011514043.1:c.509T>A XP_011512345.1:p.Ile170Asn
XM_011514044.1:c.428T>A XP_011512346.1:p.Ile143Asn
XM_011514045.1:c.509T>A XP_011512347.1:p.Ile170Asn
XR_241702.1:n.531T>A
XR_241703.1:n.524T>A
XR_925614.1:n.531T>A
XR_925615.1:n.531T>A
NM_001364440.1:c.428T>A NP_001351369.1:p.Ile143Asn
NM_001364441.1:c.428T>A NP_001351370.1:p.Ile143Asn
NM_001364442.1:c.428T>A NP_001351371.1:p.Ile143Asn
NM_024010.3:c.428T>A NP_076915.3:p.Ile143Asn
NR_134480.1:n.551T>A
NR_134481.1:n.565T>A
NR_134482.1:n.411T>A
NR_157168.1:n.481T>A
NR_157169.1:n.341T>A
NR_157170.1:n.367T>A
NR_157171.1:n.341T>A
NR_157172.1:n.367T>A
NR_157173.1:n.495T>A
NR_157174.1:n.367T>A
NR_157175.1:n.521T>A
NR_157176.1:n.521T>A
NR_157177.1:n.516T>A
NR_157178.1:n.521T>A
XM_024446063.1:c.473T>A XP_024301831.1:p.Ile158Asn
XM_024446064.1:c.428T>A XP_024301832.1:p.Ile143Asn
XR_001742071.1:n.531T>A
XR_001742072.1:n.531T>A
XR_001742074.1:n.531T>A
XR_001742075.1:n.531T>A
XR_001742076.1:n.531T>A
XR_001742077.1:n.531T>A
NM_001364440.2:c.428T>A NP_001351369.1:p.Ile143Asn
NM_001364441.2:c.428T>A NP_001351370.1:p.Ile143Asn
NM_001364442.2:c.428T>A NP_001351371.1:p.Ile143Asn
NM_002454.3:c.428T>A MANE Select NP_002445.2:p.Ile143Asn
NM_024010.4:c.428T>A NP_076915.3:p.Ile143Asn
NR_134480.2:n.507T>A
NR_134481.2:n.521T>A
NR_134482.2:n.367T>A
NR_157168.2:n.481T>A
NR_157169.2:n.341T>A
NR_157170.2:n.367T>A
NR_157171.2:n.341T>A
NR_157172.2:n.367T>A
NR_157173.2:n.495T>A
NR_157174.2:n.367T>A
NR_157175.2:n.521T>A
NR_157176.2:n.521T>A
NR_157177.2:n.516T>A
NR_157178.2:n.521T>A