Canonical Allele Identifier: CA359157186

Gene: MTRR

Linked Data

• ClinVar Variation Id: 2056397
• ClinVar RCV Id: RCV002938538
• MyVariant Identifiers: chr5:g.7878307A>C (hg19) ; chr5:g.7878194A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7878194A>C , CM000667.2:g.7878194A>C	GRCh38
NC_000005.9:g.7878307A>C , CM000667.1:g.7878307A>C	GRCh37
NC_000005.8:g.7931307A>C	NCBI36
NG_008856.1:g.14091A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.652A>C MANE Select	ENSP00000402510.2:p.Asn218His
ENST00000264668.6:c.733A>C	ENSP00000264668.2:p.Asn245His
ENST00000440940.6:c.652A>C	ENSP00000402510.2:p.Asn218His
ENST00000510525.5:c.677A>C
ENST00000511461.5:c.565A>C
ENST00000513439.5:c.*359A>C	ENSP00000426710.1:n.*359A>C
ENST00000514220.5:c.437A>C
ENST00000514369.5:c.*316A>C	ENSP00000426132.1:n.*316A>C
NM_002454.2:c.652A>C	NP_002445.2:p.Asn218His
NM_024010.2:c.733A>C	NP_076915.2:p.Asn245His
XM_006714474.2:c.733A>C	XP_006714537.1:p.Asn245His
XM_011514043.1:c.733A>C	XP_011512345.1:p.Asn245His
XM_011514044.1:c.652A>C	XP_011512346.1:p.Asn218His
XM_011514045.1:c.733A>C	XP_011512347.1:p.Asn245His
XR_241702.1:n.755A>C
XR_241703.1:n.748A>C
XR_925614.1:n.755A>C
XR_925615.1:n.755A>C
NM_001364440.1:c.652A>C	NP_001351369.1:p.Asn218His
NM_001364441.1:c.652A>C	NP_001351370.1:p.Asn218His
NM_001364442.1:c.652A>C	NP_001351371.1:p.Asn218His
NM_024010.3:c.652A>C	NP_076915.3:p.Asn218His
NR_134480.1:n.775A>C
NR_134481.1:n.789A>C
NR_134482.1:n.635A>C
NR_157168.1:n.705A>C
NR_157169.1:n.565A>C
NR_157170.1:n.591A>C
NR_157171.1:n.565A>C
NR_157172.1:n.591A>C
NR_157173.1:n.719A>C
NR_157174.1:n.591A>C
NR_157175.1:n.745A>C
NR_157176.1:n.745A>C
NR_157177.1:n.740A>C
NR_157178.1:n.745A>C
XM_024446063.1:c.697A>C	XP_024301831.1:p.Asn233His
XM_024446064.1:c.652A>C	XP_024301832.1:p.Asn218His
XR_001742071.1:n.755A>C
XR_001742072.1:n.755A>C
XR_001742074.1:n.755A>C
XR_001742075.1:n.755A>C
XR_001742076.1:n.755A>C
XR_001742077.1:n.755A>C
NM_001364440.2:c.652A>C	NP_001351369.1:p.Asn218His
NM_001364441.2:c.652A>C	NP_001351370.1:p.Asn218His
NM_001364442.2:c.652A>C	NP_001351371.1:p.Asn218His
NM_002454.3:c.652A>C MANE Select	NP_002445.2:p.Asn218His
NM_024010.4:c.652A>C	NP_076915.3:p.Asn218His
NR_134480.2:n.731A>C
NR_134481.2:n.745A>C
NR_134482.2:n.591A>C
NR_157168.2:n.705A>C
NR_157169.2:n.565A>C
NR_157170.2:n.591A>C
NR_157171.2:n.565A>C
NR_157172.2:n.591A>C
NR_157173.2:n.719A>C
NR_157174.2:n.591A>C
NR_157175.2:n.745A>C
NR_157176.2:n.745A>C
NR_157177.2:n.740A>C
NR_157178.2:n.745A>C