Canonical Allele Identifier: CA443128923
Gene: MTRR HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.7878165A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.7878052A>G , CM000667.2:g.7878052A>G GRCh38
NC_000005.9:g.7878165A>G , CM000667.1:g.7878165A>G GRCh37
NC_000005.8:g.7931165A>G NCBI36
NG_008856.1:g.13949A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000440940.7:c.510A>G MANE Select ENSP00000402510.2:p.Ala170=
ENST00000264668.6:c.591A>G ENSP00000264668.2:p.Ala197=
ENST00000440940.6:c.510A>G ENSP00000402510.2:p.Ala170=
ENST00000508890.1:n.323A>G
ENST00000510279.5:c.*179A>G ENSP00000427200.1:n.*179A>G
ENST00000510525.5:c.535A>G
ENST00000511461.5:c.423A>G
ENST00000513439.5:c.*217A>G ENSP00000426710.1:n.*217A>G
ENST00000514220.5:c.295A>G
ENST00000514369.5:c.*174A>G ENSP00000426132.1:n.*174A>G
NM_002454.2:c.510A>G NP_002445.2:p.Ala170=
NM_024010.2:c.591A>G NP_076915.2:p.Ala197=
XM_006714474.2:c.591A>G XP_006714537.1:p.Ala197=
XM_011514043.1:c.591A>G XP_011512345.1:p.Ala197=
XM_011514044.1:c.510A>G XP_011512346.1:p.Ala170=
XM_011514045.1:c.591A>G XP_011512347.1:p.Ala197=
XR_241702.1:n.613A>G
XR_241703.1:n.606A>G
XR_925614.1:n.613A>G
XR_925615.1:n.613A>G
NM_001364440.1:c.510A>G NP_001351369.1:p.Ala170=
NM_001364441.1:c.510A>G NP_001351370.1:p.Ala170=
NM_001364442.1:c.510A>G NP_001351371.1:p.Ala170=
NM_024010.3:c.510A>G NP_076915.3:p.Ala170=
NR_134480.1:n.633A>G
NR_134481.1:n.647A>G
NR_134482.1:n.493A>G
NR_157168.1:n.563A>G
NR_157169.1:n.423A>G
NR_157170.1:n.449A>G
NR_157171.1:n.423A>G
NR_157172.1:n.449A>G
NR_157173.1:n.577A>G
NR_157174.1:n.449A>G
NR_157175.1:n.603A>G
NR_157176.1:n.603A>G
NR_157177.1:n.598A>G
NR_157178.1:n.603A>G
XM_024446063.1:c.555A>G XP_024301831.1:p.Ala185=
XM_024446064.1:c.510A>G XP_024301832.1:p.Ala170=
XR_001742071.1:n.613A>G
XR_001742072.1:n.613A>G
XR_001742074.1:n.613A>G
XR_001742075.1:n.613A>G
XR_001742076.1:n.613A>G
XR_001742077.1:n.613A>G
NM_001364440.2:c.510A>G NP_001351369.1:p.Ala170=
NM_001364441.2:c.510A>G NP_001351370.1:p.Ala170=
NM_001364442.2:c.510A>G NP_001351371.1:p.Ala170=
NM_002454.3:c.510A>G MANE Select NP_002445.2:p.Ala170=
NM_024010.4:c.510A>G NP_076915.3:p.Ala170=
NR_134480.2:n.589A>G
NR_134481.2:n.603A>G
NR_134482.2:n.449A>G
NR_157168.2:n.563A>G
NR_157169.2:n.423A>G
NR_157170.2:n.449A>G
NR_157171.2:n.423A>G
NR_157172.2:n.449A>G
NR_157173.2:n.577A>G
NR_157174.2:n.449A>G
NR_157175.2:n.603A>G
NR_157176.2:n.603A>G
NR_157177.2:n.598A>G
NR_157178.2:n.603A>G