Canonical Allele Identifier: CA3195630

Gene: MTRR

Linked Data

• ClinVar Variation Id: 354353
• ClinVar RCV Id: RCV000345758 ; RCV000426843 ; RCV000873170
• dbSNP Id: rs149037732
• ExAC: 5:7878195 G / A
• gnomAD v2: 5-7878195-G-A
• gnomAD v3: 5-7878082-G-A
• gnomAD v4: 5-7878082-G-A
• MyVariant Identifiers: chr5:g.7878195G>A (hg19) ; chr5:g.7878082G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7878082G>A , CM000667.2:g.7878082G>A	GRCh38
NC_000005.9:g.7878195G>A , CM000667.1:g.7878195G>A	GRCh37
NC_000005.8:g.7931195G>A	NCBI36
NG_008856.1:g.13979G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.540G>A MANE Select	ENSP00000402510.2:p.Val180=
ENST00000264668.6:c.621G>A	ENSP00000264668.2:p.Val207=
ENST00000440940.6:c.540G>A	ENSP00000402510.2:p.Val180=
ENST00000510279.5:c.*209G>A	ENSP00000427200.1:n.*209G>A
ENST00000510525.5:c.565G>A
ENST00000511461.5:c.453G>A
ENST00000513439.5:c.*247G>A	ENSP00000426710.1:n.*247G>A
ENST00000514220.5:c.325G>A
ENST00000514369.5:c.*204G>A	ENSP00000426132.1:n.*204G>A
NM_002454.2:c.540G>A	NP_002445.2:p.Val180=
NM_024010.2:c.621G>A	NP_076915.2:p.Val207=
XM_006714474.2:c.621G>A	XP_006714537.1:p.Val207=
XM_011514043.1:c.621G>A	XP_011512345.1:p.Val207=
XM_011514044.1:c.540G>A	XP_011512346.1:p.Val180=
XM_011514045.1:c.621G>A	XP_011512347.1:p.Val207=
XR_241702.1:n.643G>A
XR_241703.1:n.636G>A
XR_925614.1:n.643G>A
XR_925615.1:n.643G>A
NM_001364440.1:c.540G>A	NP_001351369.1:p.Val180=
NM_001364441.1:c.540G>A	NP_001351370.1:p.Val180=
NM_001364442.1:c.540G>A	NP_001351371.1:p.Val180=
NM_024010.3:c.540G>A	NP_076915.3:p.Val180=
NR_134480.1:n.663G>A
NR_134481.1:n.677G>A
NR_134482.1:n.523G>A
NR_157168.1:n.593G>A
NR_157169.1:n.453G>A
NR_157170.1:n.479G>A
NR_157171.1:n.453G>A
NR_157172.1:n.479G>A
NR_157173.1:n.607G>A
NR_157174.1:n.479G>A
NR_157175.1:n.633G>A
NR_157176.1:n.633G>A
NR_157177.1:n.628G>A
NR_157178.1:n.633G>A
XM_024446063.1:c.585G>A	XP_024301831.1:p.Val195=
XM_024446064.1:c.540G>A	XP_024301832.1:p.Val180=
XR_001742071.1:n.643G>A
XR_001742072.1:n.643G>A
XR_001742074.1:n.643G>A
XR_001742075.1:n.643G>A
XR_001742076.1:n.643G>A
XR_001742077.1:n.643G>A
NM_001364440.2:c.540G>A	NP_001351369.1:p.Val180=
NM_001364441.2:c.540G>A	NP_001351370.1:p.Val180=
NM_001364442.2:c.540G>A	NP_001351371.1:p.Val180=
NM_002454.3:c.540G>A MANE Select	NP_002445.2:p.Val180=
NM_024010.4:c.540G>A	NP_076915.3:p.Val180=
NR_134480.2:n.619G>A
NR_134481.2:n.633G>A
NR_134482.2:n.479G>A
NR_157168.2:n.593G>A
NR_157169.2:n.453G>A
NR_157170.2:n.479G>A
NR_157171.2:n.453G>A
NR_157172.2:n.479G>A
NR_157173.2:n.607G>A
NR_157174.2:n.479G>A
NR_157175.2:n.633G>A
NR_157176.2:n.633G>A
NR_157177.2:n.628G>A
NR_157178.2:n.633G>A