Canonical Allele Identifier: CA3195767

Gene: MTRR

Linked Data

• dbSNP Id: rs745556018
• ExAC: 5:7885839 G / C
• gnomAD v2: 5-7885839-G-C
• gnomAD v4: 5-7885726-G-C
• MyVariant Identifiers: chr5:g.7885839G>C (hg19) ; chr5:g.7885726G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7885726G>C , CM000667.2:g.7885726G>C	GRCh38
NC_000005.9:g.7885839G>C , CM000667.1:g.7885839G>C	GRCh37
NC_000005.8:g.7938839G>C	NCBI36
NG_008856.1:g.21623G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.929G>C MANE Select	ENSP00000402510.2:p.Gly310Ala
ENST00000264668.6:c.1010G>C	ENSP00000264668.2:p.Gly337Ala
ENST00000440940.6:c.929G>C	ENSP00000402510.2:p.Gly310Ala
ENST00000508101.5:n.169G>C
ENST00000510525.5:c.954G>C
ENST00000511461.5:c.842G>C
ENST00000513439.5:c.*636G>C	ENSP00000426710.1:n.*636G>C
NM_002454.2:c.929G>C	NP_002445.2:p.Gly310Ala
NM_024010.2:c.1010G>C	NP_076915.2:p.Gly337Ala
XM_006714474.2:c.1010G>C	XP_006714537.1:p.Gly337Ala
XM_011514043.1:c.1010G>C	XP_011512345.1:p.Gly337Ala
XM_011514044.1:c.929G>C	XP_011512346.1:p.Gly310Ala
XM_011514045.1:c.1150G>C	XP_011512347.1:p.Glu384Gln
XR_241702.1:n.1032G>C
XR_241703.1:n.1025G>C
XR_925614.1:n.1032G>C
XR_925615.1:n.1032G>C
NM_001364440.1:c.929G>C	NP_001351369.1:p.Gly310Ala
NM_001364441.1:c.929G>C	NP_001351370.1:p.Gly310Ala
NM_001364442.1:c.929G>C	NP_001351371.1:p.Gly310Ala
NM_024010.3:c.929G>C	NP_076915.3:p.Gly310Ala
NR_134480.1:n.1052G>C
NR_134481.1:n.1066G>C
NR_134482.1:n.912G>C
NR_157168.1:n.982G>C
NR_157169.1:n.842G>C
NR_157170.1:n.1008G>C
NR_157171.1:n.842G>C
NR_157172.1:n.868G>C
NR_157173.1:n.996G>C
NR_157174.1:n.868G>C
NR_157175.1:n.1022G>C
NR_157176.1:n.1162G>C
NR_157177.1:n.1017G>C
NR_157178.1:n.1022G>C
XM_024446063.1:c.974G>C	XP_024301831.1:p.Gly325Ala
XM_024446064.1:c.929G>C	XP_024301832.1:p.Gly310Ala
XR_001742071.1:n.1032G>C
XR_001742072.1:n.1032G>C
XR_001742074.1:n.1032G>C
XR_001742075.1:n.1032G>C
XR_001742076.1:n.1172G>C
XR_001742077.1:n.1172G>C
NM_001364440.2:c.929G>C	NP_001351369.1:p.Gly310Ala
NM_001364441.2:c.929G>C	NP_001351370.1:p.Gly310Ala
NM_001364442.2:c.929G>C	NP_001351371.1:p.Gly310Ala
NM_002454.3:c.929G>C MANE Select	NP_002445.2:p.Gly310Ala
NM_024010.4:c.929G>C	NP_076915.3:p.Gly310Ala
NR_134480.2:n.1008G>C
NR_134481.2:n.1022G>C
NR_134482.2:n.868G>C
NR_157168.2:n.982G>C
NR_157169.2:n.842G>C
NR_157170.2:n.1008G>C
NR_157171.2:n.842G>C
NR_157172.2:n.868G>C
NR_157173.2:n.996G>C
NR_157174.2:n.868G>C
NR_157175.2:n.1022G>C
NR_157176.2:n.1162G>C
NR_157177.2:n.1017G>C
NR_157178.2:n.1022G>C