Canonical Allele Identifier: CA443129035
Gene: MTRR HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.7885837T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.7885724T>G , CM000667.2:g.7885724T>G GRCh38
NC_000005.9:g.7885837T>G , CM000667.1:g.7885837T>G GRCh37
NC_000005.8:g.7938837T>G NCBI36
NG_008856.1:g.21621T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000440940.7:c.927T>G MANE Select ENSP00000402510.2:p.Pro309=
ENST00000264668.6:c.1008T>G ENSP00000264668.2:p.Pro336=
ENST00000440940.6:c.927T>G ENSP00000402510.2:p.Pro309=
ENST00000508101.5:n.167T>G
ENST00000510525.5:c.952T>G
ENST00000511461.5:c.840T>G
ENST00000513439.5:c.*634T>G ENSP00000426710.1:n.*634T>G
NM_002454.2:c.927T>G NP_002445.2:p.Pro309=
NM_024010.2:c.1008T>G NP_076915.2:p.Pro336=
XM_006714474.2:c.1008T>G XP_006714537.1:p.Pro336=
XM_011514043.1:c.1008T>G XP_011512345.1:p.Pro336=
XM_011514044.1:c.927T>G XP_011512346.1:p.Pro309=
XM_011514045.1:c.1148T>G XP_011512347.1:p.Leu383Arg
XR_241702.1:n.1030T>G
XR_241703.1:n.1023T>G
XR_925614.1:n.1030T>G
XR_925615.1:n.1030T>G
NM_001364440.1:c.927T>G NP_001351369.1:p.Pro309=
NM_001364441.1:c.927T>G NP_001351370.1:p.Pro309=
NM_001364442.1:c.927T>G NP_001351371.1:p.Pro309=
NM_024010.3:c.927T>G NP_076915.3:p.Pro309=
NR_134480.1:n.1050T>G
NR_134481.1:n.1064T>G
NR_134482.1:n.910T>G
NR_157168.1:n.980T>G
NR_157169.1:n.840T>G
NR_157170.1:n.1006T>G
NR_157171.1:n.840T>G
NR_157172.1:n.866T>G
NR_157173.1:n.994T>G
NR_157174.1:n.866T>G
NR_157175.1:n.1020T>G
NR_157176.1:n.1160T>G
NR_157177.1:n.1015T>G
NR_157178.1:n.1020T>G
XM_024446063.1:c.972T>G XP_024301831.1:p.Pro324=
XM_024446064.1:c.927T>G XP_024301832.1:p.Pro309=
XR_001742071.1:n.1030T>G
XR_001742072.1:n.1030T>G
XR_001742074.1:n.1030T>G
XR_001742075.1:n.1030T>G
XR_001742076.1:n.1170T>G
XR_001742077.1:n.1170T>G
NM_001364440.2:c.927T>G NP_001351369.1:p.Pro309=
NM_001364441.2:c.927T>G NP_001351370.1:p.Pro309=
NM_001364442.2:c.927T>G NP_001351371.1:p.Pro309=
NM_002454.3:c.927T>G MANE Select NP_002445.2:p.Pro309=
NM_024010.4:c.927T>G NP_076915.3:p.Pro309=
NR_134480.2:n.1006T>G
NR_134481.2:n.1020T>G
NR_134482.2:n.866T>G
NR_157168.2:n.980T>G
NR_157169.2:n.840T>G
NR_157170.2:n.1006T>G
NR_157171.2:n.840T>G
NR_157172.2:n.866T>G
NR_157173.2:n.994T>G
NR_157174.2:n.866T>G
NR_157175.2:n.1020T>G
NR_157176.2:n.1160T>G
NR_157177.2:n.1015T>G
NR_157178.2:n.1020T>G