Canonical Allele Identifier: CA557638716
Gene: MTRR HGNC NCBI

Linked Data

dbSNP Id: rs1561223377
gnomAD v2: 5-7885767-T-G
gnomAD v4: 5-7885654-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.7885654T>G , CM000667.2:g.7885654T>G GRCh38
NC_000005.9:g.7885767T>G , CM000667.1:g.7885767T>G GRCh37
NC_000005.8:g.7938767T>G NCBI36
NG_008856.1:g.21551T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000440940.7:c.904-47T>G MANE Select ENSP00000402510.2:n.904-47T>G
ENST00000264668.6:c.985-47T>G ENSP00000264668.2:n.985-47T>G
ENST00000440940.6:c.904-47T>G ENSP00000402510.2:n.904-47T>G
ENST00000508101.5:n.144-47T>G
ENST00000510525.5:c.929-47T>G
ENST00000511461.5:c.817-47T>G
ENST00000513439.5:c.*611-47T>G ENSP00000426710.1:n.*611-47T>G
NM_002454.2:c.904-47T>G NP_002445.2:n.904-47T>G
NM_024010.2:c.985-47T>G NP_076915.2:n.985-47T>G
XM_006714474.2:c.985-47T>G XP_006714537.1:n.985-47T>G
XM_011514043.1:c.985-47T>G XP_011512345.1:n.985-47T>G
XM_011514044.1:c.904-47T>G XP_011512346.1:n.904-47T>G
XM_011514045.1:c.1125-47T>G XP_011512347.1:n.1125-47T>G
XR_241702.1:n.1007-47T>G
XR_241703.1:n.1000-47T>G
XR_925614.1:n.1007-47T>G
XR_925615.1:n.1007-47T>G
NM_001364440.1:c.904-47T>G NP_001351369.1:n.904-47T>G
NM_001364441.1:c.904-47T>G NP_001351370.1:n.904-47T>G
NM_001364442.1:c.904-47T>G NP_001351371.1:n.904-47T>G
NM_024010.3:c.904-47T>G NP_076915.3:n.904-47T>G
NR_134480.1:n.1027-47T>G
NR_134481.1:n.1041-47T>G
NR_134482.1:n.887-47T>G
NR_157168.1:n.957-47T>G
NR_157169.1:n.817-47T>G
NR_157170.1:n.983-47T>G
NR_157171.1:n.817-47T>G
NR_157172.1:n.843-47T>G
NR_157173.1:n.971-47T>G
NR_157174.1:n.843-47T>G
NR_157175.1:n.997-47T>G
NR_157176.1:n.1137-47T>G
NR_157177.1:n.992-47T>G
NR_157178.1:n.997-47T>G
XM_024446063.1:c.949-47T>G XP_024301831.1:n.949-47T>G
XM_024446064.1:c.904-47T>G XP_024301832.1:n.904-47T>G
XR_001742071.1:n.1007-47T>G
XR_001742072.1:n.1007-47T>G
XR_001742074.1:n.1007-47T>G
XR_001742075.1:n.1007-47T>G
XR_001742076.1:n.1147-47T>G
XR_001742077.1:n.1147-47T>G
NM_001364440.2:c.904-47T>G NP_001351369.1:n.904-47T>G
NM_001364441.2:c.904-47T>G NP_001351370.1:n.904-47T>G
NM_001364442.2:c.904-47T>G NP_001351371.1:n.904-47T>G
NM_002454.3:c.904-47T>G MANE Select NP_002445.2:n.904-47T>G
NM_024010.4:c.904-47T>G NP_076915.3:n.904-47T>G
NR_134480.2:n.983-47T>G
NR_134481.2:n.997-47T>G
NR_134482.2:n.843-47T>G
NR_157168.2:n.957-47T>G
NR_157169.2:n.817-47T>G
NR_157170.2:n.983-47T>G
NR_157171.2:n.817-47T>G
NR_157172.2:n.843-47T>G
NR_157173.2:n.971-47T>G
NR_157174.2:n.843-47T>G
NR_157175.2:n.997-47T>G
NR_157176.2:n.1137-47T>G
NR_157177.2:n.992-47T>G
NR_157178.2:n.997-47T>G