Canonical Allele Identifier: CA359156692

Gene: MTRR

Linked Data

• MyVariant Identifiers: chr5:g.7878074A>C (hg19) ; chr5:g.7877961A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7877961A>C , CM000667.2:g.7877961A>C	GRCh38
NC_000005.9:g.7878074A>C , CM000667.1:g.7878074A>C	GRCh37
NC_000005.8:g.7931074A>C	NCBI36
NG_008856.1:g.13858A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.419A>C MANE Select	ENSP00000402510.2:p.Glu140Ala
ENST00000264668.6:c.500A>C	ENSP00000264668.2:p.Glu167Ala
ENST00000440940.6:c.419A>C	ENSP00000402510.2:p.Glu140Ala
ENST00000502509.5:n.634A>C
ENST00000502550.5:c.419A>C	ENSP00000424599.1:p.Glu140Ala
ENST00000503550.5:c.*354A>C	ENSP00000424644.1:n.*354A>C
ENST00000508047.5:c.472A>C
ENST00000508890.1:n.232A>C
ENST00000510279.5:c.*88A>C	ENSP00000427200.1:n.*88A>C
ENST00000510525.5:c.444A>C
ENST00000511461.5:c.332A>C
ENST00000513439.5:c.*126A>C	ENSP00000426710.1:n.*126A>C
ENST00000514220.5:c.204A>C
ENST00000514369.5:c.*83A>C	ENSP00000426132.1:n.*83A>C
NM_002454.2:c.419A>C	NP_002445.2:p.Glu140Ala
NM_024010.2:c.500A>C	NP_076915.2:p.Glu167Ala
XM_006714474.2:c.500A>C	XP_006714537.1:p.Glu167Ala
XM_011514043.1:c.500A>C	XP_011512345.1:p.Glu167Ala
XM_011514044.1:c.419A>C	XP_011512346.1:p.Glu140Ala
XM_011514045.1:c.500A>C	XP_011512347.1:p.Glu167Ala
XR_241702.1:n.522A>C
XR_241703.1:n.515A>C
XR_925614.1:n.522A>C
XR_925615.1:n.522A>C
NM_001364440.1:c.419A>C	NP_001351369.1:p.Glu140Ala
NM_001364441.1:c.419A>C	NP_001351370.1:p.Glu140Ala
NM_001364442.1:c.419A>C	NP_001351371.1:p.Glu140Ala
NM_024010.3:c.419A>C	NP_076915.3:p.Glu140Ala
NR_134480.1:n.542A>C
NR_134481.1:n.556A>C
NR_134482.1:n.402A>C
NR_157168.1:n.472A>C
NR_157169.1:n.332A>C
NR_157170.1:n.358A>C
NR_157171.1:n.332A>C
NR_157172.1:n.358A>C
NR_157173.1:n.486A>C
NR_157174.1:n.358A>C
NR_157175.1:n.512A>C
NR_157176.1:n.512A>C
NR_157177.1:n.507A>C
NR_157178.1:n.512A>C
XM_024446063.1:c.464A>C	XP_024301831.1:p.Glu155Ala
XM_024446064.1:c.419A>C	XP_024301832.1:p.Glu140Ala
XR_001742071.1:n.522A>C
XR_001742072.1:n.522A>C
XR_001742074.1:n.522A>C
XR_001742075.1:n.522A>C
XR_001742076.1:n.522A>C
XR_001742077.1:n.522A>C
NM_001364440.2:c.419A>C	NP_001351369.1:p.Glu140Ala
NM_001364441.2:c.419A>C	NP_001351370.1:p.Glu140Ala
NM_001364442.2:c.419A>C	NP_001351371.1:p.Glu140Ala
NM_002454.3:c.419A>C MANE Select	NP_002445.2:p.Glu140Ala
NM_024010.4:c.419A>C	NP_076915.3:p.Glu140Ala
NR_134480.2:n.498A>C
NR_134481.2:n.512A>C
NR_134482.2:n.358A>C
NR_157168.2:n.472A>C
NR_157169.2:n.332A>C
NR_157170.2:n.358A>C
NR_157171.2:n.332A>C
NR_157172.2:n.358A>C
NR_157173.2:n.486A>C
NR_157174.2:n.358A>C
NR_157175.2:n.512A>C
NR_157176.2:n.512A>C
NR_157177.2:n.507A>C
NR_157178.2:n.512A>C