Canonical Allele Identifier: CA359156674
Gene: MTRR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.7877952T>G , CM000667.2:g.7877952T>G GRCh38
NC_000005.9:g.7878065T>G , CM000667.1:g.7878065T>G GRCh37
NC_000005.8:g.7931065T>G NCBI36
NG_008856.1:g.13849T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000440940.7:c.410T>G MANE Select ENSP00000402510.2:p.Leu137Arg
ENST00000264668.6:c.491T>G ENSP00000264668.2:p.Leu164Arg
ENST00000440940.6:c.410T>G ENSP00000402510.2:p.Leu137Arg
ENST00000502509.5:n.625T>G
ENST00000502550.5:c.410T>G ENSP00000424599.1:p.Leu137Arg
ENST00000503550.5:c.*345T>G ENSP00000424644.1:n.*345T>G
ENST00000508047.5:c.463T>G
ENST00000508890.1:n.223T>G
ENST00000510279.5:c.*79T>G ENSP00000427200.1:n.*79T>G
ENST00000510525.5:c.435T>G
ENST00000511461.5:c.323T>G
ENST00000513439.5:c.*117T>G ENSP00000426710.1:n.*117T>G
ENST00000514220.5:c.195T>G
ENST00000514369.5:c.*74T>G ENSP00000426132.1:n.*74T>G
NM_002454.2:c.410T>G NP_002445.2:p.Leu137Arg
NM_024010.2:c.491T>G NP_076915.2:p.Leu164Arg
XM_006714474.2:c.491T>G XP_006714537.1:p.Leu164Arg
XM_011514043.1:c.491T>G XP_011512345.1:p.Leu164Arg
XM_011514044.1:c.410T>G XP_011512346.1:p.Leu137Arg
XM_011514045.1:c.491T>G XP_011512347.1:p.Leu164Arg
XR_241702.1:n.513T>G
XR_241703.1:n.506T>G
XR_925614.1:n.513T>G
XR_925615.1:n.513T>G
NM_001364440.1:c.410T>G NP_001351369.1:p.Leu137Arg
NM_001364441.1:c.410T>G NP_001351370.1:p.Leu137Arg
NM_001364442.1:c.410T>G NP_001351371.1:p.Leu137Arg
NM_024010.3:c.410T>G NP_076915.3:p.Leu137Arg
NR_134480.1:n.533T>G
NR_134481.1:n.547T>G
NR_134482.1:n.393T>G
NR_157168.1:n.463T>G
NR_157169.1:n.323T>G
NR_157170.1:n.349T>G
NR_157171.1:n.323T>G
NR_157172.1:n.349T>G
NR_157173.1:n.477T>G
NR_157174.1:n.349T>G
NR_157175.1:n.503T>G
NR_157176.1:n.503T>G
NR_157177.1:n.498T>G
NR_157178.1:n.503T>G
XM_024446063.1:c.455T>G XP_024301831.1:p.Leu152Arg
XM_024446064.1:c.410T>G XP_024301832.1:p.Leu137Arg
XR_001742071.1:n.513T>G
XR_001742072.1:n.513T>G
XR_001742074.1:n.513T>G
XR_001742075.1:n.513T>G
XR_001742076.1:n.513T>G
XR_001742077.1:n.513T>G
NM_001364440.2:c.410T>G NP_001351369.1:p.Leu137Arg
NM_001364441.2:c.410T>G NP_001351370.1:p.Leu137Arg
NM_001364442.2:c.410T>G NP_001351371.1:p.Leu137Arg
NM_002454.3:c.410T>G MANE Select NP_002445.2:p.Leu137Arg
NM_024010.4:c.410T>G NP_076915.3:p.Leu137Arg
NR_134480.2:n.489T>G
NR_134481.2:n.503T>G
NR_134482.2:n.349T>G
NR_157168.2:n.463T>G
NR_157169.2:n.323T>G
NR_157170.2:n.349T>G
NR_157171.2:n.323T>G
NR_157172.2:n.349T>G
NR_157173.2:n.477T>G
NR_157174.2:n.349T>G
NR_157175.2:n.503T>G
NR_157176.2:n.503T>G
NR_157177.2:n.498T>G
NR_157178.2:n.503T>G