Canonical Allele Identifier: CA2673201489
Gene: MTRR HGNC NCBI

Linked Data

gnomAD v4: 5-7885134-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.7885134G>T , CM000667.2:g.7885134G>T GRCh38
NC_000005.9:g.7885247G>T , CM000667.1:g.7885247G>T GRCh37
NC_000005.8:g.7938247G>T NCBI36
NG_008856.1:g.21031G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000440940.7:c.904-567G>T MANE Select ENSP00000402510.2:n.904-567G>T
ENST00000264668.6:c.985-567G>T ENSP00000264668.2:n.985-567G>T
ENST00000440940.6:c.904-567G>T ENSP00000402510.2:n.904-567G>T
ENST00000508101.5:n.19G>T
ENST00000510525.5:c.929-567G>T
ENST00000511461.5:c.817-567G>T
ENST00000513439.5:c.*611-567G>T ENSP00000426710.1:n.*611-567G>T
NM_002454.2:c.904-567G>T NP_002445.2:n.904-567G>T
NM_024010.2:c.985-567G>T NP_076915.2:n.985-567G>T
XM_006714474.2:c.985-567G>T XP_006714537.1:n.985-567G>T
XM_011514043.1:c.985-567G>T XP_011512345.1:n.985-567G>T
XM_011514044.1:c.904-567G>T XP_011512346.1:n.904-567G>T
XM_011514045.1:c.1125-567G>T XP_011512347.1:n.1125-567G>T
XR_241702.1:n.1007-567G>T
XR_241703.1:n.1000-567G>T
XR_925614.1:n.1007-567G>T
XR_925615.1:n.1007-567G>T
NM_001364440.1:c.904-567G>T NP_001351369.1:n.904-567G>T
NM_001364441.1:c.904-567G>T NP_001351370.1:n.904-567G>T
NM_001364442.1:c.904-567G>T NP_001351371.1:n.904-567G>T
NM_024010.3:c.904-567G>T NP_076915.3:n.904-567G>T
NR_134480.1:n.1027-567G>T
NR_134481.1:n.1041-567G>T
NR_134482.1:n.887-567G>T
NR_157168.1:n.957-567G>T
NR_157169.1:n.817-567G>T
NR_157170.1:n.983-567G>T
NR_157171.1:n.817-567G>T
NR_157172.1:n.843-567G>T
NR_157173.1:n.971-567G>T
NR_157174.1:n.843-567G>T
NR_157175.1:n.997-567G>T
NR_157176.1:n.1137-567G>T
NR_157177.1:n.992-567G>T
NR_157178.1:n.997-567G>T
XM_024446063.1:c.949-567G>T XP_024301831.1:n.949-567G>T
XM_024446064.1:c.904-567G>T XP_024301832.1:n.904-567G>T
XR_001742071.1:n.1007-567G>T
XR_001742072.1:n.1007-567G>T
XR_001742074.1:n.1007-567G>T
XR_001742075.1:n.1007-567G>T
XR_001742076.1:n.1147-567G>T
XR_001742077.1:n.1147-567G>T
NM_001364440.2:c.904-567G>T NP_001351369.1:n.904-567G>T
NM_001364441.2:c.904-567G>T NP_001351370.1:n.904-567G>T
NM_001364442.2:c.904-567G>T NP_001351371.1:n.904-567G>T
NM_002454.3:c.904-567G>T MANE Select NP_002445.2:n.904-567G>T
NM_024010.4:c.904-567G>T NP_076915.3:n.904-567G>T
NR_134480.2:n.983-567G>T
NR_134481.2:n.997-567G>T
NR_134482.2:n.843-567G>T
NR_157168.2:n.957-567G>T
NR_157169.2:n.817-567G>T
NR_157170.2:n.983-567G>T
NR_157171.2:n.817-567G>T
NR_157172.2:n.843-567G>T
NR_157173.2:n.971-567G>T
NR_157174.2:n.843-567G>T
NR_157175.2:n.997-567G>T
NR_157176.2:n.1137-567G>T
NR_157177.2:n.992-567G>T
NR_157178.2:n.997-567G>T