Canonical Allele Identifier: CA3195760

Gene: MTRR

Linked Data

• ClinVar Variation Id: 2178256
• ClinVar RCV Id: RCV002588573 ; RCV002595443
• dbSNP Id: rs781093877
• ExAC: 5:7885818 C / T
• gnomAD v2: 5-7885818-C-T
• gnomAD v3: 5-7885705-C-T
• gnomAD v4: 5-7885705-C-T
• MyVariant Identifiers: chr5:g.7885818C>T (hg19) ; chr5:g.7885705C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7885705C>T , CM000667.2:g.7885705C>T	GRCh38
NC_000005.9:g.7885818C>T , CM000667.1:g.7885818C>T	GRCh37
NC_000005.8:g.7938818C>T	NCBI36
NG_008856.1:g.21602C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.908C>T MANE Select	ENSP00000402510.2:p.Thr303Ile
ENST00000264668.6:c.989C>T	ENSP00000264668.2:p.Thr330Ile
ENST00000440940.6:c.908C>T	ENSP00000402510.2:p.Thr303Ile
ENST00000508101.5:n.148C>T
ENST00000510525.5:c.933C>T
ENST00000511461.5:c.821C>T
ENST00000513439.5:c.*615C>T	ENSP00000426710.1:n.*615C>T
NM_002454.2:c.908C>T	NP_002445.2:p.Thr303Ile
NM_024010.2:c.989C>T	NP_076915.2:p.Thr330Ile
XM_006714474.2:c.989C>T	XP_006714537.1:p.Thr330Ile
XM_011514043.1:c.989C>T	XP_011512345.1:p.Thr330Ile
XM_011514044.1:c.908C>T	XP_011512346.1:p.Thr303Ile
XM_011514045.1:c.1129C>T	XP_011512347.1:p.Gln377Ter
XR_241702.1:n.1011C>T
XR_241703.1:n.1004C>T
XR_925614.1:n.1011C>T
XR_925615.1:n.1011C>T
NM_001364440.1:c.908C>T	NP_001351369.1:p.Thr303Ile
NM_001364441.1:c.908C>T	NP_001351370.1:p.Thr303Ile
NM_001364442.1:c.908C>T	NP_001351371.1:p.Thr303Ile
NM_024010.3:c.908C>T	NP_076915.3:p.Thr303Ile
NR_134480.1:n.1031C>T
NR_134481.1:n.1045C>T
NR_134482.1:n.891C>T
NR_157168.1:n.961C>T
NR_157169.1:n.821C>T
NR_157170.1:n.987C>T
NR_157171.1:n.821C>T
NR_157172.1:n.847C>T
NR_157173.1:n.975C>T
NR_157174.1:n.847C>T
NR_157175.1:n.1001C>T
NR_157176.1:n.1141C>T
NR_157177.1:n.996C>T
NR_157178.1:n.1001C>T
XM_024446063.1:c.953C>T	XP_024301831.1:p.Thr318Ile
XM_024446064.1:c.908C>T	XP_024301832.1:p.Thr303Ile
XR_001742071.1:n.1011C>T
XR_001742072.1:n.1011C>T
XR_001742074.1:n.1011C>T
XR_001742075.1:n.1011C>T
XR_001742076.1:n.1151C>T
XR_001742077.1:n.1151C>T
NM_001364440.2:c.908C>T	NP_001351369.1:p.Thr303Ile
NM_001364441.2:c.908C>T	NP_001351370.1:p.Thr303Ile
NM_001364442.2:c.908C>T	NP_001351371.1:p.Thr303Ile
NM_002454.3:c.908C>T MANE Select	NP_002445.2:p.Thr303Ile
NM_024010.4:c.908C>T	NP_076915.3:p.Thr303Ile
NR_134480.2:n.987C>T
NR_134481.2:n.1001C>T
NR_134482.2:n.847C>T
NR_157168.2:n.961C>T
NR_157169.2:n.821C>T
NR_157170.2:n.987C>T
NR_157171.2:n.821C>T
NR_157172.2:n.847C>T
NR_157173.2:n.975C>T
NR_157174.2:n.847C>T
NR_157175.2:n.1001C>T
NR_157176.2:n.1141C>T
NR_157177.2:n.996C>T
NR_157178.2:n.1001C>T