Canonical Allele Identifier: CA113798750

Gene: MTRR

Linked Data

• dbSNP Id: rs867018730
• gnomAD v4: 5-7878174-C-T
• MyVariant Identifiers: chr5:g.7878287C>T (hg19) ; chr5:g.7878174C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7878174C>T , CM000667.2:g.7878174C>T	GRCh38
NC_000005.9:g.7878287C>T , CM000667.1:g.7878287C>T	GRCh37
NC_000005.8:g.7931287C>T	NCBI36
NG_008856.1:g.14071C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.632C>T MANE Select	ENSP00000402510.2:p.Ala211Val
ENST00000264668.6:c.713C>T	ENSP00000264668.2:p.Ala238Val
ENST00000440940.6:c.632C>T	ENSP00000402510.2:p.Ala211Val
ENST00000510525.5:c.657C>T
ENST00000511461.5:c.545C>T
ENST00000513439.5:c.*339C>T	ENSP00000426710.1:n.*339C>T
ENST00000514220.5:c.417C>T
ENST00000514369.5:c.*296C>T	ENSP00000426132.1:n.*296C>T
NM_002454.2:c.632C>T	NP_002445.2:p.Ala211Val
NM_024010.2:c.713C>T	NP_076915.2:p.Ala238Val
XM_006714474.2:c.713C>T	XP_006714537.1:p.Ala238Val
XM_011514043.1:c.713C>T	XP_011512345.1:p.Ala238Val
XM_011514044.1:c.632C>T	XP_011512346.1:p.Ala211Val
XM_011514045.1:c.713C>T	XP_011512347.1:p.Ala238Val
XR_241702.1:n.735C>T
XR_241703.1:n.728C>T
XR_925614.1:n.735C>T
XR_925615.1:n.735C>T
NM_001364440.1:c.632C>T	NP_001351369.1:p.Ala211Val
NM_001364441.1:c.632C>T	NP_001351370.1:p.Ala211Val
NM_001364442.1:c.632C>T	NP_001351371.1:p.Ala211Val
NM_024010.3:c.632C>T	NP_076915.3:p.Ala211Val
NR_134480.1:n.755C>T
NR_134481.1:n.769C>T
NR_134482.1:n.615C>T
NR_157168.1:n.685C>T
NR_157169.1:n.545C>T
NR_157170.1:n.571C>T
NR_157171.1:n.545C>T
NR_157172.1:n.571C>T
NR_157173.1:n.699C>T
NR_157174.1:n.571C>T
NR_157175.1:n.725C>T
NR_157176.1:n.725C>T
NR_157177.1:n.720C>T
NR_157178.1:n.725C>T
XM_024446063.1:c.677C>T	XP_024301831.1:p.Ala226Val
XM_024446064.1:c.632C>T	XP_024301832.1:p.Ala211Val
XR_001742071.1:n.735C>T
XR_001742072.1:n.735C>T
XR_001742074.1:n.735C>T
XR_001742075.1:n.735C>T
XR_001742076.1:n.735C>T
XR_001742077.1:n.735C>T
NM_001364440.2:c.632C>T	NP_001351369.1:p.Ala211Val
NM_001364441.2:c.632C>T	NP_001351370.1:p.Ala211Val
NM_001364442.2:c.632C>T	NP_001351371.1:p.Ala211Val
NM_002454.3:c.632C>T MANE Select	NP_002445.2:p.Ala211Val
NM_024010.4:c.632C>T	NP_076915.3:p.Ala211Val
NR_134480.2:n.711C>T
NR_134481.2:n.725C>T
NR_134482.2:n.571C>T
NR_157168.2:n.685C>T
NR_157169.2:n.545C>T
NR_157170.2:n.571C>T
NR_157171.2:n.545C>T
NR_157172.2:n.571C>T
NR_157173.2:n.699C>T
NR_157174.2:n.571C>T
NR_157175.2:n.725C>T
NR_157176.2:n.725C>T
NR_157177.2:n.720C>T
NR_157178.2:n.725C>T