Canonical Allele Identifier: CA359157878

Gene: MTRR

Linked Data

• dbSNP Id: rs1446857825
• gnomAD v2: 5-7885880-G-A
• gnomAD v4: 5-7885767-G-A
• MyVariant Identifiers: chr5:g.7885880G>A (hg19) ; chr5:g.7885767G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7885767G>A , CM000667.2:g.7885767G>A	GRCh38
NC_000005.9:g.7885880G>A , CM000667.1:g.7885880G>A	GRCh37
NC_000005.8:g.7938880G>A	NCBI36
NG_008856.1:g.21664G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.970G>A MANE Select	ENSP00000402510.2:p.Val324Ile
ENST00000264668.6:c.1051G>A	ENSP00000264668.2:p.Val351Ile
ENST00000440940.6:c.970G>A	ENSP00000402510.2:p.Val324Ile
ENST00000508101.5:n.210G>A
ENST00000510525.5:c.995G>A
ENST00000511461.5:c.883G>A
ENST00000513439.5:c.*677G>A	ENSP00000426710.1:n.*677G>A
NM_002454.2:c.970G>A	NP_002445.2:p.Val324Ile
NM_024010.2:c.1051G>A	NP_076915.2:p.Val351Ile
XM_006714474.2:c.1051G>A	XP_006714537.1:p.Val351Ile
XM_011514043.1:c.1051G>A	XP_011512345.1:p.Val351Ile
XM_011514044.1:c.970G>A	XP_011512346.1:p.Val324Ile
XM_011514045.1:c.*24G>A	XP_011512347.1:n.*24G>A
XR_241702.1:n.1073G>A
XR_241703.1:n.1066G>A
XR_925614.1:n.1073G>A
XR_925615.1:n.1073G>A
NM_001364440.1:c.970G>A	NP_001351369.1:p.Val324Ile
NM_001364441.1:c.970G>A	NP_001351370.1:p.Val324Ile
NM_001364442.1:c.970G>A	NP_001351371.1:p.Val324Ile
NM_024010.3:c.970G>A	NP_076915.3:p.Val324Ile
NR_134480.1:n.1093G>A
NR_134481.1:n.1107G>A
NR_134482.1:n.953G>A
NR_157168.1:n.1023G>A
NR_157169.1:n.883G>A
NR_157170.1:n.1049G>A
NR_157171.1:n.883G>A
NR_157172.1:n.909G>A
NR_157173.1:n.1037G>A
NR_157174.1:n.909G>A
NR_157175.1:n.1063G>A
NR_157176.1:n.1203G>A
NR_157177.1:n.1058G>A
NR_157178.1:n.1063G>A
XM_024446063.1:c.1015G>A	XP_024301831.1:p.Val339Ile
XM_024446064.1:c.970G>A	XP_024301832.1:p.Val324Ile
XR_001742071.1:n.1073G>A
XR_001742072.1:n.1073G>A
XR_001742074.1:n.1073G>A
XR_001742075.1:n.1073G>A
XR_001742076.1:n.1213G>A
XR_001742077.1:n.1213G>A
NM_001364440.2:c.970G>A	NP_001351369.1:p.Val324Ile
NM_001364441.2:c.970G>A	NP_001351370.1:p.Val324Ile
NM_001364442.2:c.970G>A	NP_001351371.1:p.Val324Ile
NM_002454.3:c.970G>A MANE Select	NP_002445.2:p.Val324Ile
NM_024010.4:c.970G>A	NP_076915.3:p.Val324Ile
NR_134480.2:n.1049G>A
NR_134481.2:n.1063G>A
NR_134482.2:n.909G>A
NR_157168.2:n.1023G>A
NR_157169.2:n.883G>A
NR_157170.2:n.1049G>A
NR_157171.2:n.883G>A
NR_157172.2:n.909G>A
NR_157173.2:n.1037G>A
NR_157174.2:n.909G>A
NR_157175.2:n.1063G>A
NR_157176.2:n.1203G>A
NR_157177.2:n.1058G>A
NR_157178.2:n.1063G>A