Canonical Allele Identifier: CA557637994
Gene: MTRR HGNC NCBI

Linked Data

dbSNP Id: rs1426425496
gnomAD v2: 5-7878014-A-G
gnomAD v4: 5-7877901-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.7877901A>G , CM000667.2:g.7877901A>G GRCh38
NC_000005.9:g.7878014A>G , CM000667.1:g.7878014A>G GRCh37
NC_000005.8:g.7931014A>G NCBI36
NG_008856.1:g.13798A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000440940.7:c.402-43A>G MANE Select ENSP00000402510.2:n.402-43A>G
ENST00000264668.6:c.483-43A>G ENSP00000264668.2:n.483-43A>G
ENST00000440940.6:c.402-43A>G ENSP00000402510.2:n.402-43A>G
ENST00000502509.5:n.617-43A>G
ENST00000502550.5:c.402-43A>G ENSP00000424599.1:n.402-43A>G
ENST00000503550.5:c.*337-43A>G ENSP00000424644.1:n.*337-43A>G
ENST00000508047.5:c.455-43A>G
ENST00000508890.1:n.215-43A>G
ENST00000510279.5:c.*71-43A>G ENSP00000427200.1:n.*71-43A>G
ENST00000510525.5:c.427-43A>G
ENST00000511461.5:c.315-43A>G
ENST00000513439.5:c.*109-43A>G ENSP00000426710.1:n.*109-43A>G
ENST00000514220.5:c.187-43A>G
ENST00000514369.5:c.*71-48A>G ENSP00000426132.1:n.*71-48A>G
NM_002454.2:c.402-43A>G NP_002445.2:n.402-43A>G
NM_024010.2:c.483-43A>G NP_076915.2:n.483-43A>G
XM_006714474.2:c.483-43A>G XP_006714537.1:n.483-43A>G
XM_011514043.1:c.483-43A>G XP_011512345.1:n.483-43A>G
XM_011514044.1:c.402-43A>G XP_011512346.1:n.402-43A>G
XM_011514045.1:c.483-43A>G XP_011512347.1:n.483-43A>G
XR_241702.1:n.505-43A>G
XR_241703.1:n.498-43A>G
XR_925614.1:n.505-43A>G
XR_925615.1:n.505-43A>G
NM_001364440.1:c.402-43A>G NP_001351369.1:n.402-43A>G
NM_001364441.1:c.402-43A>G NP_001351370.1:n.402-43A>G
NM_001364442.1:c.402-43A>G NP_001351371.1:n.402-43A>G
NM_024010.3:c.402-43A>G NP_076915.3:n.402-43A>G
NR_134480.1:n.525-43A>G
NR_134481.1:n.539-43A>G
NR_134482.1:n.385-43A>G
NR_157168.1:n.455-43A>G
NR_157169.1:n.315-43A>G
NR_157170.1:n.341-43A>G
NR_157171.1:n.315-43A>G
NR_157172.1:n.341-43A>G
NR_157173.1:n.469-43A>G
NR_157174.1:n.341-43A>G
NR_157175.1:n.495-43A>G
NR_157176.1:n.495-43A>G
NR_157177.1:n.495-48A>G
NR_157178.1:n.495-43A>G
XM_024446063.1:c.447-43A>G XP_024301831.1:n.447-43A>G
XM_024446064.1:c.402-43A>G XP_024301832.1:n.402-43A>G
XR_001742071.1:n.505-43A>G
XR_001742072.1:n.505-43A>G
XR_001742074.1:n.505-43A>G
XR_001742075.1:n.505-43A>G
XR_001742076.1:n.505-43A>G
XR_001742077.1:n.505-43A>G
NM_001364440.2:c.402-43A>G NP_001351369.1:n.402-43A>G
NM_001364441.2:c.402-43A>G NP_001351370.1:n.402-43A>G
NM_001364442.2:c.402-43A>G NP_001351371.1:n.402-43A>G
NM_002454.3:c.402-43A>G MANE Select NP_002445.2:n.402-43A>G
NM_024010.4:c.402-43A>G NP_076915.3:n.402-43A>G
NR_134480.2:n.481-43A>G
NR_134481.2:n.495-43A>G
NR_134482.2:n.341-43A>G
NR_157168.2:n.455-43A>G
NR_157169.2:n.315-43A>G
NR_157170.2:n.341-43A>G
NR_157171.2:n.315-43A>G
NR_157172.2:n.341-43A>G
NR_157173.2:n.469-43A>G
NR_157174.2:n.341-43A>G
NR_157175.2:n.495-43A>G
NR_157176.2:n.495-43A>G
NR_157177.2:n.495-48A>G
NR_157178.2:n.495-43A>G