Canonical Allele Identifier: CA359159211
Gene: MTRR HGNC NCBI

Linked Data

gnomAD v4: 5-7895752-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.7895752A>T , CM000667.2:g.7895752A>T GRCh38
NC_000005.9:g.7895865A>T , CM000667.1:g.7895865A>T GRCh37
NC_000005.8:g.7948865A>T NCBI36
NG_008856.1:g.31649A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000440940.7:c.1576A>T MANE Select ENSP00000402510.2:p.Thr526Ser
ENST00000264668.6:c.1657A>T ENSP00000264668.2:p.Thr553Ser
ENST00000440940.6:c.1576A>T ENSP00000402510.2:p.Thr526Ser
ENST00000510525.5:c.1512A>T
ENST00000511461.5:c.1489A>T
ENST00000513439.5:c.*1283A>T ENSP00000426710.1:n.*1283A>T
NM_002454.2:c.1576A>T NP_002445.2:p.Thr526Ser
NM_024010.2:c.1657A>T NP_076915.2:p.Thr553Ser
XM_011514043.1:c.1657A>T XP_011512345.1:p.Thr553Ser
XM_011514044.1:c.1576A>T XP_011512346.1:p.Thr526Ser
XR_241702.1:n.1590A>T
XR_241703.1:n.1583A>T
XR_925614.1:n.1702A>T
NM_001364440.1:c.1576A>T NP_001351369.1:p.Thr526Ser
NM_001364441.1:c.1576A>T NP_001351370.1:p.Thr526Ser
NM_001364442.1:c.1576A>T NP_001351371.1:p.Thr526Ser
NM_024010.3:c.1576A>T NP_076915.3:p.Thr526Ser
NR_134480.1:n.1699A>T
NR_134481.1:n.1624A>T
NR_134482.1:n.1559A>T
NR_157168.1:n.1629A>T
NR_157169.1:n.1489A>T
NR_157170.1:n.1655A>T
NR_157171.1:n.1512A>T
NR_157172.1:n.1426A>T
NR_157173.1:n.1666A>T
NR_157174.1:n.1667A>T
NR_157175.1:n.1821A>T
NR_157176.1:n.1984A>T
NR_157177.1:n.1664A>T
NR_157178.1:n.1692A>T
XM_024446063.1:c.1621A>T XP_024301831.1:p.Thr541Ser
XM_024446064.1:c.1576A>T XP_024301832.1:p.Thr526Ser
XR_001742071.1:n.1854A>T
XR_001742072.1:n.1831A>T
XR_001742074.1:n.1590A>T
XR_001742075.1:n.1742A>T
XR_001742076.1:n.1819A>T
XR_001742077.1:n.1842A>T
NM_001364440.2:c.1576A>T NP_001351369.1:p.Thr526Ser
NM_001364441.2:c.1576A>T NP_001351370.1:p.Thr526Ser
NM_001364442.2:c.1576A>T NP_001351371.1:p.Thr526Ser
NM_002454.3:c.1576A>T MANE Select NP_002445.2:p.Thr526Ser
NM_024010.4:c.1576A>T NP_076915.3:p.Thr526Ser
NR_134480.2:n.1655A>T
NR_134481.2:n.1580A>T
NR_134482.2:n.1515A>T
NR_157168.2:n.1629A>T
NR_157169.2:n.1489A>T
NR_157170.2:n.1655A>T
NR_157171.2:n.1512A>T
NR_157172.2:n.1426A>T
NR_157173.2:n.1666A>T
NR_157174.2:n.1667A>T
NR_157175.2:n.1821A>T
NR_157176.2:n.1984A>T
NR_157177.2:n.1664A>T
NR_157178.2:n.1692A>T