Canonical Allele Identifier: CA359157198

Gene: MTRR

Linked Data

• gnomAD v4: 5-7878200-G-A
• MyVariant Identifiers: chr5:g.7878313G>A (hg19) ; chr5:g.7878200G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7878200G>A , CM000667.2:g.7878200G>A	GRCh38
NC_000005.9:g.7878313G>A , CM000667.1:g.7878313G>A	GRCh37
NC_000005.8:g.7931313G>A	NCBI36
NG_008856.1:g.14097G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.658G>A MANE Select	ENSP00000402510.2:p.Val220Ile
ENST00000264668.6:c.739G>A	ENSP00000264668.2:p.Val247Ile
ENST00000440940.6:c.658G>A	ENSP00000402510.2:p.Val220Ile
ENST00000510525.5:c.683G>A
ENST00000511461.5:c.571G>A
ENST00000513439.5:c.*365G>A	ENSP00000426710.1:n.*365G>A
ENST00000514220.5:c.443G>A
ENST00000514369.5:c.*322G>A	ENSP00000426132.1:n.*322G>A
NM_002454.2:c.658G>A	NP_002445.2:p.Val220Ile
NM_024010.2:c.739G>A	NP_076915.2:p.Val247Ile
XM_006714474.2:c.739G>A	XP_006714537.1:p.Val247Ile
XM_011514043.1:c.739G>A	XP_011512345.1:p.Val247Ile
XM_011514044.1:c.658G>A	XP_011512346.1:p.Val220Ile
XM_011514045.1:c.739G>A	XP_011512347.1:p.Val247Ile
XR_241702.1:n.761G>A
XR_241703.1:n.754G>A
XR_925614.1:n.761G>A
XR_925615.1:n.761G>A
NM_001364440.1:c.658G>A	NP_001351369.1:p.Val220Ile
NM_001364441.1:c.658G>A	NP_001351370.1:p.Val220Ile
NM_001364442.1:c.658G>A	NP_001351371.1:p.Val220Ile
NM_024010.3:c.658G>A	NP_076915.3:p.Val220Ile
NR_134480.1:n.781G>A
NR_134481.1:n.795G>A
NR_134482.1:n.641G>A
NR_157168.1:n.711G>A
NR_157169.1:n.571G>A
NR_157170.1:n.597G>A
NR_157171.1:n.571G>A
NR_157172.1:n.597G>A
NR_157173.1:n.725G>A
NR_157174.1:n.597G>A
NR_157175.1:n.751G>A
NR_157176.1:n.751G>A
NR_157177.1:n.746G>A
NR_157178.1:n.751G>A
XM_024446063.1:c.703G>A	XP_024301831.1:p.Val235Ile
XM_024446064.1:c.658G>A	XP_024301832.1:p.Val220Ile
XR_001742071.1:n.761G>A
XR_001742072.1:n.761G>A
XR_001742074.1:n.761G>A
XR_001742075.1:n.761G>A
XR_001742076.1:n.761G>A
XR_001742077.1:n.761G>A
NM_001364440.2:c.658G>A	NP_001351369.1:p.Val220Ile
NM_001364441.2:c.658G>A	NP_001351370.1:p.Val220Ile
NM_001364442.2:c.658G>A	NP_001351371.1:p.Val220Ile
NM_002454.3:c.658G>A MANE Select	NP_002445.2:p.Val220Ile
NM_024010.4:c.658G>A	NP_076915.3:p.Val220Ile
NR_134480.2:n.737G>A
NR_134481.2:n.751G>A
NR_134482.2:n.597G>A
NR_157168.2:n.711G>A
NR_157169.2:n.571G>A
NR_157170.2:n.597G>A
NR_157171.2:n.571G>A
NR_157172.2:n.597G>A
NR_157173.2:n.725G>A
NR_157174.2:n.597G>A
NR_157175.2:n.751G>A
NR_157176.2:n.751G>A
NR_157177.2:n.746G>A
NR_157178.2:n.751G>A