Canonical Allele Identifier: CA3195914

Gene: MTRR

Linked Data

• dbSNP Id: rs776224275
• ExAC: 5:7891498 A / T
• gnomAD v4: 5-7891385-A-T
• MyVariant Identifiers: chr5:g.7891498A>T (hg19) ; chr5:g.7891385A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7891385A>T , CM000667.2:g.7891385A>T	GRCh38
NC_000005.9:g.7891498A>T , CM000667.1:g.7891498A>T	GRCh37
NC_000005.8:g.7944498A>T	NCBI36
NG_008856.1:g.27282A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.1341A>T MANE Select	ENSP00000402510.2:p.Lys447Asn
ENST00000264668.6:c.1422A>T	ENSP00000264668.2:p.Lys474Asn
ENST00000440940.6:c.1341A>T	ENSP00000402510.2:p.Lys447Asn
ENST00000507202.1:n.17A>T
ENST00000507414.1:n.81A>T
ENST00000508101.5:n.581A>T
ENST00000510525.5:c.1277A>T
ENST00000511461.5:c.1254A>T
ENST00000512311.5:n.320A>T
ENST00000513439.5:c.*1048A>T	ENSP00000426710.1:n.*1048A>T
NM_002454.2:c.1341A>T	NP_002445.2:p.Lys447Asn
NM_024010.2:c.1422A>T	NP_076915.2:p.Lys474Asn
XM_011514043.1:c.1422A>T	XP_011512345.1:p.Lys474Asn
XM_011514044.1:c.1341A>T	XP_011512346.1:p.Lys447Asn
XR_241702.1:n.1355A>T
XR_241703.1:n.1348A>T
XR_925614.1:n.1467A>T
XR_925615.1:n.1619A>T
NM_001364440.1:c.1341A>T	NP_001351369.1:p.Lys447Asn
NM_001364441.1:c.1341A>T	NP_001351370.1:p.Lys447Asn
NM_001364442.1:c.1341A>T	NP_001351371.1:p.Lys447Asn
NM_024010.3:c.1341A>T	NP_076915.3:p.Lys447Asn
NR_134480.1:n.1464A>T
NR_134481.1:n.1389A>T
NR_134482.1:n.1324A>T
NR_157168.1:n.1394A>T
NR_157169.1:n.1254A>T
NR_157170.1:n.1420A>T
NR_157171.1:n.1277A>T
NR_157172.1:n.1191A>T
NR_157173.1:n.1431A>T
NR_157174.1:n.1432A>T
NR_157175.1:n.1586A>T
NR_157176.1:n.1749A>T
NR_157177.1:n.1429A>T
NR_157178.1:n.1457A>T
XM_024446063.1:c.1386A>T	XP_024301831.1:p.Lys462Asn
XM_024446064.1:c.1341A>T	XP_024301832.1:p.Lys447Asn
XR_001742071.1:n.1619A>T
XR_001742072.1:n.1596A>T
XR_001742074.1:n.1355A>T
XR_001742075.1:n.1507A>T
XR_001742076.1:n.1584A>T
XR_001742077.1:n.1607A>T
NM_001364440.2:c.1341A>T	NP_001351369.1:p.Lys447Asn
NM_001364441.2:c.1341A>T	NP_001351370.1:p.Lys447Asn
NM_001364442.2:c.1341A>T	NP_001351371.1:p.Lys447Asn
NM_002454.3:c.1341A>T MANE Select	NP_002445.2:p.Lys447Asn
NM_024010.4:c.1341A>T	NP_076915.3:p.Lys447Asn
NR_134480.2:n.1420A>T
NR_134481.2:n.1345A>T
NR_134482.2:n.1280A>T
NR_157168.2:n.1394A>T
NR_157169.2:n.1254A>T
NR_157170.2:n.1420A>T
NR_157171.2:n.1277A>T
NR_157172.2:n.1191A>T
NR_157173.2:n.1431A>T
NR_157174.2:n.1432A>T
NR_157175.2:n.1586A>T
NR_157176.2:n.1749A>T
NR_157177.2:n.1429A>T
NR_157178.2:n.1457A>T