Canonical Allele Identifier: CA359156979

Gene: MTRR

Linked Data

• dbSNP Id: rs1448318571
• gnomAD v2: 5-7878212-A-G
• gnomAD v4: 5-7878099-A-G
• MyVariant Identifiers: chr5:g.7878212A>G (hg19) ; chr5:g.7878099A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7878099A>G , CM000667.2:g.7878099A>G	GRCh38
NC_000005.9:g.7878212A>G , CM000667.1:g.7878212A>G	GRCh37
NC_000005.8:g.7931212A>G	NCBI36
NG_008856.1:g.13996A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.557A>G MANE Select	ENSP00000402510.2:p.His186Arg
ENST00000264668.6:c.638A>G	ENSP00000264668.2:p.His213Arg
ENST00000440940.6:c.557A>G	ENSP00000402510.2:p.His186Arg
ENST00000510279.5:c.*226A>G	ENSP00000427200.1:n.*226A>G
ENST00000510525.5:c.582A>G
ENST00000511461.5:c.470A>G
ENST00000513439.5:c.*264A>G	ENSP00000426710.1:n.*264A>G
ENST00000514220.5:c.342A>G
ENST00000514369.5:c.*221A>G	ENSP00000426132.1:n.*221A>G
NM_002454.2:c.557A>G	NP_002445.2:p.His186Arg
NM_024010.2:c.638A>G	NP_076915.2:p.His213Arg
XM_006714474.2:c.638A>G	XP_006714537.1:p.His213Arg
XM_011514043.1:c.638A>G	XP_011512345.1:p.His213Arg
XM_011514044.1:c.557A>G	XP_011512346.1:p.His186Arg
XM_011514045.1:c.638A>G	XP_011512347.1:p.His213Arg
XR_241702.1:n.660A>G
XR_241703.1:n.653A>G
XR_925614.1:n.660A>G
XR_925615.1:n.660A>G
NM_001364440.1:c.557A>G	NP_001351369.1:p.His186Arg
NM_001364441.1:c.557A>G	NP_001351370.1:p.His186Arg
NM_001364442.1:c.557A>G	NP_001351371.1:p.His186Arg
NM_024010.3:c.557A>G	NP_076915.3:p.His186Arg
NR_134480.1:n.680A>G
NR_134481.1:n.694A>G
NR_134482.1:n.540A>G
NR_157168.1:n.610A>G
NR_157169.1:n.470A>G
NR_157170.1:n.496A>G
NR_157171.1:n.470A>G
NR_157172.1:n.496A>G
NR_157173.1:n.624A>G
NR_157174.1:n.496A>G
NR_157175.1:n.650A>G
NR_157176.1:n.650A>G
NR_157177.1:n.645A>G
NR_157178.1:n.650A>G
XM_024446063.1:c.602A>G	XP_024301831.1:p.His201Arg
XM_024446064.1:c.557A>G	XP_024301832.1:p.His186Arg
XR_001742071.1:n.660A>G
XR_001742072.1:n.660A>G
XR_001742074.1:n.660A>G
XR_001742075.1:n.660A>G
XR_001742076.1:n.660A>G
XR_001742077.1:n.660A>G
NM_001364440.2:c.557A>G	NP_001351369.1:p.His186Arg
NM_001364441.2:c.557A>G	NP_001351370.1:p.His186Arg
NM_001364442.2:c.557A>G	NP_001351371.1:p.His186Arg
NM_002454.3:c.557A>G MANE Select	NP_002445.2:p.His186Arg
NM_024010.4:c.557A>G	NP_076915.3:p.His186Arg
NR_134480.2:n.636A>G
NR_134481.2:n.650A>G
NR_134482.2:n.496A>G
NR_157168.2:n.610A>G
NR_157169.2:n.470A>G
NR_157170.2:n.496A>G
NR_157171.2:n.470A>G
NR_157172.2:n.496A>G
NR_157173.2:n.624A>G
NR_157174.2:n.496A>G
NR_157175.2:n.650A>G
NR_157176.2:n.650A>G
NR_157177.2:n.645A>G
NR_157178.2:n.650A>G