Canonical Allele Identifier: CA3195958
Gene: MTRR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.7892824A>G , CM000667.2:g.7892824A>G GRCh38
NC_000005.9:g.7892937A>G , CM000667.1:g.7892937A>G GRCh37
NC_000005.8:g.7945937A>G NCBI36
NG_008856.1:g.28721A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000440940.7:c.1468A>G MANE Select ENSP00000402510.2:p.Thr490Ala
ENST00000264668.6:c.1549A>G ENSP00000264668.2:p.Thr517Ala
ENST00000440940.6:c.1468A>G ENSP00000402510.2:p.Thr490Ala
ENST00000507202.1:n.144A>G
ENST00000507414.1:n.208A>G
ENST00000510525.5:c.1404A>G
ENST00000511461.5:c.1381A>G
ENST00000513439.5:c.*1175A>G ENSP00000426710.1:n.*1175A>G
NM_002454.2:c.1468A>G NP_002445.2:p.Thr490Ala
NM_024010.2:c.1549A>G NP_076915.2:p.Thr517Ala
XM_011514043.1:c.1549A>G XP_011512345.1:p.Thr517Ala
XM_011514044.1:c.1468A>G XP_011512346.1:p.Thr490Ala
XR_241702.1:n.1482A>G
XR_241703.1:n.1475A>G
XR_925614.1:n.1594A>G
XR_925615.1:n.1746A>G
NM_001364440.1:c.1468A>G NP_001351369.1:p.Thr490Ala
NM_001364441.1:c.1468A>G NP_001351370.1:p.Thr490Ala
NM_001364442.1:c.1468A>G NP_001351371.1:p.Thr490Ala
NM_024010.3:c.1468A>G NP_076915.3:p.Thr490Ala
NR_134480.1:n.1591A>G
NR_134481.1:n.1516A>G
NR_134482.1:n.1451A>G
NR_157168.1:n.1521A>G
NR_157169.1:n.1381A>G
NR_157170.1:n.1547A>G
NR_157171.1:n.1404A>G
NR_157172.1:n.1318A>G
NR_157173.1:n.1558A>G
NR_157174.1:n.1559A>G
NR_157175.1:n.1713A>G
NR_157176.1:n.1876A>G
NR_157177.1:n.1556A>G
NR_157178.1:n.1584A>G
XM_024446063.1:c.1513A>G XP_024301831.1:p.Thr505Ala
XM_024446064.1:c.1468A>G XP_024301832.1:p.Thr490Ala
XR_001742071.1:n.1746A>G
XR_001742072.1:n.1723A>G
XR_001742074.1:n.1482A>G
XR_001742075.1:n.1634A>G
XR_001742076.1:n.1711A>G
XR_001742077.1:n.1734A>G
NM_001364440.2:c.1468A>G NP_001351369.1:p.Thr490Ala
NM_001364441.2:c.1468A>G NP_001351370.1:p.Thr490Ala
NM_001364442.2:c.1468A>G NP_001351371.1:p.Thr490Ala
NM_002454.3:c.1468A>G MANE Select NP_002445.2:p.Thr490Ala
NM_024010.4:c.1468A>G NP_076915.3:p.Thr490Ala
NR_134480.2:n.1547A>G
NR_134481.2:n.1472A>G
NR_134482.2:n.1407A>G
NR_157168.2:n.1521A>G
NR_157169.2:n.1381A>G
NR_157170.2:n.1547A>G
NR_157171.2:n.1404A>G
NR_157172.2:n.1318A>G
NR_157173.2:n.1558A>G
NR_157174.2:n.1559A>G
NR_157175.2:n.1713A>G
NR_157176.2:n.1876A>G
NR_157177.2:n.1556A>G
NR_157178.2:n.1584A>G