Canonical Allele Identifier: CA3195519

Gene: MTRR

Linked Data

• ClinVar Variation Id: 354344
• ClinVar RCV Id: RCV000379192 ; RCV000427337 ; RCV000642246 ; RCV001705519
• dbSNP Id: rs41282641
• ExAC: 5:7873566 C / G
• gnomAD v2: 5-7873566-C-G
• gnomAD v3: 5-7873453-C-G
• gnomAD v4: 5-7873453-C-G
• MyVariant Identifiers: chr5:g.7873566C>G (hg19) ; chr5:g.7873453C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7873453C>G , CM000667.2:g.7873453C>G	GRCh38
NC_000005.9:g.7873566C>G , CM000667.1:g.7873566C>G	GRCh37
NC_000005.8:g.7926566C>G	NCBI36
NG_008856.1:g.9350C>G
NG_033101.1:g.585G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000440940.7:c.210C>G MANE Select	ENSP00000402510.2:p.Arg70=
ENST00000264668.6:c.291C>G	ENSP00000264668.2:p.Arg97=
ENST00000440940.6:c.210C>G	ENSP00000402510.2:p.Arg70=
ENST00000502509.5:n.499-1805C>G
ENST00000502550.5:c.210C>G	ENSP00000424599.1:p.Arg70=
ENST00000503550.5:c.*145C>G	ENSP00000424644.1:n.*145C>G
ENST00000508047.5:c.277C>G
ENST00000510279.5:c.130-1805C>G	ENSP00000427200.1:n.130-1805C>G
ENST00000510525.5:c.235C>G
ENST00000511461.5:c.197-1805C>G
ENST00000512217.5:c.210C>G	ENSP00000421318.1:p.Arg70=
ENST00000513439.5:c.210C>G	ENSP00000426710.1:p.Arg70=
ENST00000514220.5:c.69-1805C>G
ENST00000514369.5:c.130-1805C>G	ENSP00000426132.1:n.130-1805C>G
NM_002454.2:c.210C>G	NP_002445.2:p.Arg70=
NM_024010.2:c.291C>G	NP_076915.2:p.Arg97=
XM_006714474.2:c.291C>G	XP_006714537.1:p.Arg97=
XM_011514043.1:c.291C>G	XP_011512345.1:p.Arg97=
XM_011514044.1:c.210C>G	XP_011512346.1:p.Arg70=
XM_011514045.1:c.291C>G	XP_011512347.1:p.Arg97=
XR_241702.1:n.313C>G
XR_241703.1:n.306C>G
XR_925614.1:n.313C>G
XR_925615.1:n.313C>G
NM_001364440.1:c.210C>G	NP_001351369.1:p.Arg70=
NM_001364441.1:c.210C>G	NP_001351370.1:p.Arg70=
NM_001364442.1:c.210C>G	NP_001351371.1:p.Arg70=
NM_024010.3:c.210C>G	NP_076915.3:p.Arg70=
NR_134480.1:n.347C>G
NR_134481.1:n.347C>G
NR_134482.1:n.267-1805C>G
NR_157168.1:n.277C>G
NR_157169.1:n.197-1805C>G
NR_157170.1:n.223-1805C>G
NR_157171.1:n.197-1805C>G
NR_157172.1:n.223-1805C>G
NR_157173.1:n.277C>G
NR_157174.1:n.223-1805C>G
NR_157175.1:n.303C>G
NR_157176.1:n.303C>G
NR_157177.1:n.303C>G
NR_157178.1:n.303C>G
XM_024446063.1:c.255C>G	XP_024301831.1:p.Arg85=
XM_024446064.1:c.210C>G	XP_024301832.1:p.Arg70=
XR_001742071.1:n.313C>G
XR_001742072.1:n.313C>G
XR_001742074.1:n.313C>G
XR_001742075.1:n.313C>G
XR_001742076.1:n.313C>G
XR_001742077.1:n.313C>G
NM_001364440.2:c.210C>G	NP_001351369.1:p.Arg70=
NM_001364441.2:c.210C>G	NP_001351370.1:p.Arg70=
NM_001364442.2:c.210C>G	NP_001351371.1:p.Arg70=
NM_002454.3:c.210C>G MANE Select	NP_002445.2:p.Arg70=
NM_024010.4:c.210C>G	NP_076915.3:p.Arg70=
NR_134480.2:n.303C>G
NR_134481.2:n.303C>G
NR_134482.2:n.223-1805C>G
NR_157168.2:n.277C>G
NR_157169.2:n.197-1805C>G
NR_157170.2:n.223-1805C>G
NR_157171.2:n.197-1805C>G
NR_157172.2:n.223-1805C>G
NR_157173.2:n.277C>G
NR_157174.2:n.223-1805C>G
NR_157175.2:n.303C>G
NR_157176.2:n.303C>G
NR_157177.2:n.303C>G
NR_157178.2:n.303C>G