Canonical Allele Identifier: CA2578265755

Gene: MTRR

Linked Data

• ClinVar Variation Id: 2823183
• ClinVar RCV Id: RCV003618572
• gnomAD v4: 5-7873356-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7873356A>T , CM000667.2:g.7873356A>T	GRCh38
NC_000005.9:g.7873469A>T , CM000667.1:g.7873469A>T	GRCh37
NC_000005.8:g.7926469A>T	NCBI36
NG_008856.1:g.9253A>T
NG_033101.1:g.682T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.130-17A>T MANE Select	ENSP00000402510.2:n.130-17A>T
ENST00000264668.6:c.211-17A>T	ENSP00000264668.2:n.211-17A>T
ENST00000440940.6:c.130-17A>T	ENSP00000402510.2:n.130-17A>T
ENST00000502509.5:n.499-1902A>T
ENST00000502550.5:c.130-17A>T	ENSP00000424599.1:n.130-17A>T
ENST00000503550.5:c.*65-17A>T	ENSP00000424644.1:n.*65-17A>T
ENST00000508047.5:c.197-17A>T
ENST00000510279.5:c.130-1902A>T	ENSP00000427200.1:n.130-1902A>T
ENST00000510525.5:c.155-17A>T
ENST00000511461.5:c.197-1902A>T
ENST00000512217.5:c.130-17A>T	ENSP00000421318.1:n.130-17A>T
ENST00000513439.5:c.130-17A>T	ENSP00000426710.1:n.130-17A>T
ENST00000514220.5:c.69-1902A>T
ENST00000514369.5:c.130-1902A>T	ENSP00000426132.1:n.130-1902A>T
NM_002454.2:c.130-17A>T	NP_002445.2:n.130-17A>T
NM_024010.2:c.211-17A>T	NP_076915.2:n.211-17A>T
XM_006714474.2:c.211-17A>T	XP_006714537.1:n.211-17A>T
XM_011514043.1:c.211-17A>T	XP_011512345.1:n.211-17A>T
XM_011514044.1:c.130-17A>T	XP_011512346.1:n.130-17A>T
XM_011514045.1:c.211-17A>T	XP_011512347.1:n.211-17A>T
XR_241702.1:n.233-17A>T
XR_241703.1:n.226-17A>T
XR_925614.1:n.233-17A>T
XR_925615.1:n.233-17A>T
NM_001364440.1:c.130-17A>T	NP_001351369.1:n.130-17A>T
NM_001364441.1:c.130-17A>T	NP_001351370.1:n.130-17A>T
NM_001364442.1:c.130-17A>T	NP_001351371.1:n.130-17A>T
NM_024010.3:c.130-17A>T	NP_076915.3:n.130-17A>T
NR_134480.1:n.267-17A>T
NR_134481.1:n.267-17A>T
NR_134482.1:n.267-1902A>T
NR_157168.1:n.197-17A>T
NR_157169.1:n.197-1902A>T
NR_157170.1:n.223-1902A>T
NR_157171.1:n.197-1902A>T
NR_157172.1:n.223-1902A>T
NR_157173.1:n.197-17A>T
NR_157174.1:n.223-1902A>T
NR_157175.1:n.223-17A>T
NR_157176.1:n.223-17A>T
NR_157177.1:n.223-17A>T
NR_157178.1:n.223-17A>T
XM_024446063.1:c.175-17A>T	XP_024301831.1:n.175-17A>T
XM_024446064.1:c.130-17A>T	XP_024301832.1:n.130-17A>T
XR_001742071.1:n.233-17A>T
XR_001742072.1:n.233-17A>T
XR_001742074.1:n.233-17A>T
XR_001742075.1:n.233-17A>T
XR_001742076.1:n.233-17A>T
XR_001742077.1:n.233-17A>T
NM_001364440.2:c.130-17A>T	NP_001351369.1:n.130-17A>T
NM_001364441.2:c.130-17A>T	NP_001351370.1:n.130-17A>T
NM_001364442.2:c.130-17A>T	NP_001351371.1:n.130-17A>T
NM_002454.3:c.130-17A>T MANE Select	NP_002445.2:n.130-17A>T
NM_024010.4:c.130-17A>T	NP_076915.3:n.130-17A>T
NR_134480.2:n.223-17A>T
NR_134481.2:n.223-17A>T
NR_134482.2:n.223-1902A>T
NR_157168.2:n.197-17A>T
NR_157169.2:n.197-1902A>T
NR_157170.2:n.223-1902A>T
NR_157171.2:n.197-1902A>T
NR_157172.2:n.223-1902A>T
NR_157173.2:n.197-17A>T
NR_157174.2:n.223-1902A>T
NR_157175.2:n.223-17A>T
NR_157176.2:n.223-17A>T
NR_157177.2:n.223-17A>T
NR_157178.2:n.223-17A>T