Canonical Allele Identifier: CA443248074

Gene: MTRR

Linked Data

• ClinVar Variation Id: 1537328
• ClinVar RCV Id: RCV002157176
• dbSNP Id: rs368140804
• gnomAD v4: 5-7878178-G-A
• MyVariant Identifiers: chr5:g.7878291G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7878178G>A , CM000667.2:g.7878178G>A	GRCh38
NC_000005.9:g.7878291G>A , CM000667.1:g.7878291G>A	GRCh37
NC_000005.8:g.7931291G>A	NCBI36
NG_008856.1:g.14075G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.636G>A MANE Select	ENSP00000402510.2:p.Val212=
ENST00000264668.6:c.717G>A	ENSP00000264668.2:p.Val239=
ENST00000440940.6:c.636G>A	ENSP00000402510.2:p.Val212=
ENST00000510525.5:c.661G>A
ENST00000511461.5:c.549G>A
ENST00000513439.5:c.*343G>A	ENSP00000426710.1:n.*343G>A
ENST00000514220.5:c.421G>A
ENST00000514369.5:c.*300G>A	ENSP00000426132.1:n.*300G>A
NM_002454.2:c.636G>A	NP_002445.2:p.Val212=
NM_024010.2:c.717G>A	NP_076915.2:p.Val239=
XM_006714474.2:c.717G>A	XP_006714537.1:p.Val239=
XM_011514043.1:c.717G>A	XP_011512345.1:p.Val239=
XM_011514044.1:c.636G>A	XP_011512346.1:p.Val212=
XM_011514045.1:c.717G>A	XP_011512347.1:p.Val239=
XR_241702.1:n.739G>A
XR_241703.1:n.732G>A
XR_925614.1:n.739G>A
XR_925615.1:n.739G>A
NM_001364440.1:c.636G>A	NP_001351369.1:p.Val212=
NM_001364441.1:c.636G>A	NP_001351370.1:p.Val212=
NM_001364442.1:c.636G>A	NP_001351371.1:p.Val212=
NM_024010.3:c.636G>A	NP_076915.3:p.Val212=
NR_134480.1:n.759G>A
NR_134481.1:n.773G>A
NR_134482.1:n.619G>A
NR_157168.1:n.689G>A
NR_157169.1:n.549G>A
NR_157170.1:n.575G>A
NR_157171.1:n.549G>A
NR_157172.1:n.575G>A
NR_157173.1:n.703G>A
NR_157174.1:n.575G>A
NR_157175.1:n.729G>A
NR_157176.1:n.729G>A
NR_157177.1:n.724G>A
NR_157178.1:n.729G>A
XM_024446063.1:c.681G>A	XP_024301831.1:p.Val227=
XM_024446064.1:c.636G>A	XP_024301832.1:p.Val212=
XR_001742071.1:n.739G>A
XR_001742072.1:n.739G>A
XR_001742074.1:n.739G>A
XR_001742075.1:n.739G>A
XR_001742076.1:n.739G>A
XR_001742077.1:n.739G>A
NM_001364440.2:c.636G>A	NP_001351369.1:p.Val212=
NM_001364441.2:c.636G>A	NP_001351370.1:p.Val212=
NM_001364442.2:c.636G>A	NP_001351371.1:p.Val212=
NM_002454.3:c.636G>A MANE Select	NP_002445.2:p.Val212=
NM_024010.4:c.636G>A	NP_076915.3:p.Val212=
NR_134480.2:n.715G>A
NR_134481.2:n.729G>A
NR_134482.2:n.575G>A
NR_157168.2:n.689G>A
NR_157169.2:n.549G>A
NR_157170.2:n.575G>A
NR_157171.2:n.549G>A
NR_157172.2:n.575G>A
NR_157173.2:n.703G>A
NR_157174.2:n.575G>A
NR_157175.2:n.729G>A
NR_157176.2:n.729G>A
NR_157177.2:n.724G>A
NR_157178.2:n.729G>A