Canonical Allele Identifier: CA359158723

Gene: MTRR

Linked Data

• dbSNP Id: rs747568149
• gnomAD v4: 5-7891391-A-T
• MyVariant Identifiers: chr5:g.7891504A>T (hg19) ; chr5:g.7891391A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7891391A>T , CM000667.2:g.7891391A>T	GRCh38
NC_000005.9:g.7891504A>T , CM000667.1:g.7891504A>T	GRCh37
NC_000005.8:g.7944504A>T	NCBI36
NG_008856.1:g.27288A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.1347A>T MANE Select	ENSP00000402510.2:p.Gln449His
ENST00000264668.6:c.1428A>T	ENSP00000264668.2:p.Gln476His
ENST00000440940.6:c.1347A>T	ENSP00000402510.2:p.Gln449His
ENST00000507202.1:n.23A>T
ENST00000507414.1:n.87A>T
ENST00000510525.5:c.1283A>T
ENST00000511461.5:c.1260A>T
ENST00000512311.5:n.326A>T
ENST00000513439.5:c.*1054A>T	ENSP00000426710.1:n.*1054A>T
NM_002454.2:c.1347A>T	NP_002445.2:p.Gln449His
NM_024010.2:c.1428A>T	NP_076915.2:p.Gln476His
XM_011514043.1:c.1428A>T	XP_011512345.1:p.Gln476His
XM_011514044.1:c.1347A>T	XP_011512346.1:p.Gln449His
XR_241702.1:n.1361A>T
XR_241703.1:n.1354A>T
XR_925614.1:n.1473A>T
XR_925615.1:n.1625A>T
NM_001364440.1:c.1347A>T	NP_001351369.1:p.Gln449His
NM_001364441.1:c.1347A>T	NP_001351370.1:p.Gln449His
NM_001364442.1:c.1347A>T	NP_001351371.1:p.Gln449His
NM_024010.3:c.1347A>T	NP_076915.3:p.Gln449His
NR_134480.1:n.1470A>T
NR_134481.1:n.1395A>T
NR_134482.1:n.1330A>T
NR_157168.1:n.1400A>T
NR_157169.1:n.1260A>T
NR_157170.1:n.1426A>T
NR_157171.1:n.1283A>T
NR_157172.1:n.1197A>T
NR_157173.1:n.1437A>T
NR_157174.1:n.1438A>T
NR_157175.1:n.1592A>T
NR_157176.1:n.1755A>T
NR_157177.1:n.1435A>T
NR_157178.1:n.1463A>T
XM_024446063.1:c.1392A>T	XP_024301831.1:p.Gln464His
XM_024446064.1:c.1347A>T	XP_024301832.1:p.Gln449His
XR_001742071.1:n.1625A>T
XR_001742072.1:n.1602A>T
XR_001742074.1:n.1361A>T
XR_001742075.1:n.1513A>T
XR_001742076.1:n.1590A>T
XR_001742077.1:n.1613A>T
NM_001364440.2:c.1347A>T	NP_001351369.1:p.Gln449His
NM_001364441.2:c.1347A>T	NP_001351370.1:p.Gln449His
NM_001364442.2:c.1347A>T	NP_001351371.1:p.Gln449His
NM_002454.3:c.1347A>T MANE Select	NP_002445.2:p.Gln449His
NM_024010.4:c.1347A>T	NP_076915.3:p.Gln449His
NR_134480.2:n.1426A>T
NR_134481.2:n.1351A>T
NR_134482.2:n.1286A>T
NR_157168.2:n.1400A>T
NR_157169.2:n.1260A>T
NR_157170.2:n.1426A>T
NR_157171.2:n.1283A>T
NR_157172.2:n.1197A>T
NR_157173.2:n.1437A>T
NR_157174.2:n.1438A>T
NR_157175.2:n.1592A>T
NR_157176.2:n.1755A>T
NR_157177.2:n.1435A>T
NR_157178.2:n.1463A>T