Canonical Allele Identifier: CA3195637

Gene: MTRR

Linked Data

• dbSNP Id: rs758631703
• ExAC: 5:7878231 G / C
• gnomAD v2: 5-7878231-G-C
• gnomAD v4: 5-7878118-G-C
• MyVariant Identifiers: chr5:g.7878231G>C (hg19) ; chr5:g.7878118G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7878118G>C , CM000667.2:g.7878118G>C	GRCh38
NC_000005.9:g.7878231G>C , CM000667.1:g.7878231G>C	GRCh37
NC_000005.8:g.7931231G>C	NCBI36
NG_008856.1:g.14015G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.576G>C MANE Select	ENSP00000402510.2:p.Glu192Asp
ENST00000264668.6:c.657G>C	ENSP00000264668.2:p.Glu219Asp
ENST00000440940.6:c.576G>C	ENSP00000402510.2:p.Glu192Asp
ENST00000510279.5:c.*245G>C	ENSP00000427200.1:n.*245G>C
ENST00000510525.5:c.601G>C
ENST00000511461.5:c.489G>C
ENST00000513439.5:c.*283G>C	ENSP00000426710.1:n.*283G>C
ENST00000514220.5:c.361G>C
ENST00000514369.5:c.*240G>C	ENSP00000426132.1:n.*240G>C
NM_002454.2:c.576G>C	NP_002445.2:p.Glu192Asp
NM_024010.2:c.657G>C	NP_076915.2:p.Glu219Asp
XM_006714474.2:c.657G>C	XP_006714537.1:p.Glu219Asp
XM_011514043.1:c.657G>C	XP_011512345.1:p.Glu219Asp
XM_011514044.1:c.576G>C	XP_011512346.1:p.Glu192Asp
XM_011514045.1:c.657G>C	XP_011512347.1:p.Glu219Asp
XR_241702.1:n.679G>C
XR_241703.1:n.672G>C
XR_925614.1:n.679G>C
XR_925615.1:n.679G>C
NM_001364440.1:c.576G>C	NP_001351369.1:p.Glu192Asp
NM_001364441.1:c.576G>C	NP_001351370.1:p.Glu192Asp
NM_001364442.1:c.576G>C	NP_001351371.1:p.Glu192Asp
NM_024010.3:c.576G>C	NP_076915.3:p.Glu192Asp
NR_134480.1:n.699G>C
NR_134481.1:n.713G>C
NR_134482.1:n.559G>C
NR_157168.1:n.629G>C
NR_157169.1:n.489G>C
NR_157170.1:n.515G>C
NR_157171.1:n.489G>C
NR_157172.1:n.515G>C
NR_157173.1:n.643G>C
NR_157174.1:n.515G>C
NR_157175.1:n.669G>C
NR_157176.1:n.669G>C
NR_157177.1:n.664G>C
NR_157178.1:n.669G>C
XM_024446063.1:c.621G>C	XP_024301831.1:p.Glu207Asp
XM_024446064.1:c.576G>C	XP_024301832.1:p.Glu192Asp
XR_001742071.1:n.679G>C
XR_001742072.1:n.679G>C
XR_001742074.1:n.679G>C
XR_001742075.1:n.679G>C
XR_001742076.1:n.679G>C
XR_001742077.1:n.679G>C
NM_001364440.2:c.576G>C	NP_001351369.1:p.Glu192Asp
NM_001364441.2:c.576G>C	NP_001351370.1:p.Glu192Asp
NM_001364442.2:c.576G>C	NP_001351371.1:p.Glu192Asp
NM_002454.3:c.576G>C MANE Select	NP_002445.2:p.Glu192Asp
NM_024010.4:c.576G>C	NP_076915.3:p.Glu192Asp
NR_134480.2:n.655G>C
NR_134481.2:n.669G>C
NR_134482.2:n.515G>C
NR_157168.2:n.629G>C
NR_157169.2:n.489G>C
NR_157170.2:n.515G>C
NR_157171.2:n.489G>C
NR_157172.2:n.515G>C
NR_157173.2:n.643G>C
NR_157174.2:n.515G>C
NR_157175.2:n.669G>C
NR_157176.2:n.669G>C
NR_157177.2:n.664G>C
NR_157178.2:n.669G>C