Canonical Allele Identifier: CA359156789
Gene: MTRR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.7878004T>G , CM000667.2:g.7878004T>G GRCh38
NC_000005.9:g.7878117T>G , CM000667.1:g.7878117T>G GRCh37
NC_000005.8:g.7931117T>G NCBI36
NG_008856.1:g.13901T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000440940.7:c.462T>G MANE Select ENSP00000402510.2:p.Phe154Leu
ENST00000264668.6:c.543T>G ENSP00000264668.2:p.Phe181Leu
ENST00000440940.6:c.462T>G ENSP00000402510.2:p.Phe154Leu
ENST00000502509.5:n.677T>G
ENST00000502550.5:c.462T>G ENSP00000424599.1:p.Phe154Leu
ENST00000508047.5:c.515T>G
ENST00000508890.1:n.275T>G
ENST00000510279.5:c.*131T>G ENSP00000427200.1:n.*131T>G
ENST00000510525.5:c.487T>G
ENST00000511461.5:c.375T>G
ENST00000513439.5:c.*169T>G ENSP00000426710.1:n.*169T>G
ENST00000514220.5:c.247T>G
ENST00000514369.5:c.*126T>G ENSP00000426132.1:n.*126T>G
NM_002454.2:c.462T>G NP_002445.2:p.Phe154Leu
NM_024010.2:c.543T>G NP_076915.2:p.Phe181Leu
XM_006714474.2:c.543T>G XP_006714537.1:p.Phe181Leu
XM_011514043.1:c.543T>G XP_011512345.1:p.Phe181Leu
XM_011514044.1:c.462T>G XP_011512346.1:p.Phe154Leu
XM_011514045.1:c.543T>G XP_011512347.1:p.Phe181Leu
XR_241702.1:n.565T>G
XR_241703.1:n.558T>G
XR_925614.1:n.565T>G
XR_925615.1:n.565T>G
NM_001364440.1:c.462T>G NP_001351369.1:p.Phe154Leu
NM_001364441.1:c.462T>G NP_001351370.1:p.Phe154Leu
NM_001364442.1:c.462T>G NP_001351371.1:p.Phe154Leu
NM_024010.3:c.462T>G NP_076915.3:p.Phe154Leu
NR_134480.1:n.585T>G
NR_134481.1:n.599T>G
NR_134482.1:n.445T>G
NR_157168.1:n.515T>G
NR_157169.1:n.375T>G
NR_157170.1:n.401T>G
NR_157171.1:n.375T>G
NR_157172.1:n.401T>G
NR_157173.1:n.529T>G
NR_157174.1:n.401T>G
NR_157175.1:n.555T>G
NR_157176.1:n.555T>G
NR_157177.1:n.550T>G
NR_157178.1:n.555T>G
XM_024446063.1:c.507T>G XP_024301831.1:p.Phe169Leu
XM_024446064.1:c.462T>G XP_024301832.1:p.Phe154Leu
XR_001742071.1:n.565T>G
XR_001742072.1:n.565T>G
XR_001742074.1:n.565T>G
XR_001742075.1:n.565T>G
XR_001742076.1:n.565T>G
XR_001742077.1:n.565T>G
NM_001364440.2:c.462T>G NP_001351369.1:p.Phe154Leu
NM_001364441.2:c.462T>G NP_001351370.1:p.Phe154Leu
NM_001364442.2:c.462T>G NP_001351371.1:p.Phe154Leu
NM_002454.3:c.462T>G MANE Select NP_002445.2:p.Phe154Leu
NM_024010.4:c.462T>G NP_076915.3:p.Phe154Leu
NR_134480.2:n.541T>G
NR_134481.2:n.555T>G
NR_134482.2:n.401T>G
NR_157168.2:n.515T>G
NR_157169.2:n.375T>G
NR_157170.2:n.401T>G
NR_157171.2:n.375T>G
NR_157172.2:n.401T>G
NR_157173.2:n.529T>G
NR_157174.2:n.401T>G
NR_157175.2:n.555T>G
NR_157176.2:n.555T>G
NR_157177.2:n.550T>G
NR_157178.2:n.555T>G