Canonical Allele Identifier: CA3195769

Gene: MTRR

Linked Data

• ClinVar Variation Id: 1530572
• ClinVar RCV Id: RCV002082412
• dbSNP Id: rs777075473
• ExAC: 5:7885846 C / T
• gnomAD v2: 5-7885846-C-T
• gnomAD v3: 5-7885733-C-T
• gnomAD v4: 5-7885733-C-T
• MyVariant Identifiers: chr5:g.7885846C>T (hg19) ; chr5:g.7885733C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7885733C>T , CM000667.2:g.7885733C>T	GRCh38
NC_000005.9:g.7885846C>T , CM000667.1:g.7885846C>T	GRCh37
NC_000005.8:g.7938846C>T	NCBI36
NG_008856.1:g.21630C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.936C>T MANE Select	ENSP00000402510.2:p.Ala312=
ENST00000264668.6:c.1017C>T	ENSP00000264668.2:p.Ala339=
ENST00000440940.6:c.936C>T	ENSP00000402510.2:p.Ala312=
ENST00000508101.5:n.176C>T
ENST00000510525.5:c.961C>T
ENST00000511461.5:c.849C>T
ENST00000513439.5:c.*643C>T	ENSP00000426710.1:n.*643C>T
NM_002454.2:c.936C>T	NP_002445.2:p.Ala312=
NM_024010.2:c.1017C>T	NP_076915.2:p.Ala339=
XM_006714474.2:c.1017C>T	XP_006714537.1:p.Ala339=
XM_011514043.1:c.1017C>T	XP_011512345.1:p.Ala339=
XM_011514044.1:c.936C>T	XP_011512346.1:p.Ala312=
XM_011514045.1:c.1157C>T	XP_011512347.1:p.Pro386Leu
XR_241702.1:n.1039C>T
XR_241703.1:n.1032C>T
XR_925614.1:n.1039C>T
XR_925615.1:n.1039C>T
NM_001364440.1:c.936C>T	NP_001351369.1:p.Ala312=
NM_001364441.1:c.936C>T	NP_001351370.1:p.Ala312=
NM_001364442.1:c.936C>T	NP_001351371.1:p.Ala312=
NM_024010.3:c.936C>T	NP_076915.3:p.Ala312=
NR_134480.1:n.1059C>T
NR_134481.1:n.1073C>T
NR_134482.1:n.919C>T
NR_157168.1:n.989C>T
NR_157169.1:n.849C>T
NR_157170.1:n.1015C>T
NR_157171.1:n.849C>T
NR_157172.1:n.875C>T
NR_157173.1:n.1003C>T
NR_157174.1:n.875C>T
NR_157175.1:n.1029C>T
NR_157176.1:n.1169C>T
NR_157177.1:n.1024C>T
NR_157178.1:n.1029C>T
XM_024446063.1:c.981C>T	XP_024301831.1:p.Ala327=
XM_024446064.1:c.936C>T	XP_024301832.1:p.Ala312=
XR_001742071.1:n.1039C>T
XR_001742072.1:n.1039C>T
XR_001742074.1:n.1039C>T
XR_001742075.1:n.1039C>T
XR_001742076.1:n.1179C>T
XR_001742077.1:n.1179C>T
NM_001364440.2:c.936C>T	NP_001351369.1:p.Ala312=
NM_001364441.2:c.936C>T	NP_001351370.1:p.Ala312=
NM_001364442.2:c.936C>T	NP_001351371.1:p.Ala312=
NM_002454.3:c.936C>T MANE Select	NP_002445.2:p.Ala312=
NM_024010.4:c.936C>T	NP_076915.3:p.Ala312=
NR_134480.2:n.1015C>T
NR_134481.2:n.1029C>T
NR_134482.2:n.875C>T
NR_157168.2:n.989C>T
NR_157169.2:n.849C>T
NR_157170.2:n.1015C>T
NR_157171.2:n.849C>T
NR_157172.2:n.875C>T
NR_157173.2:n.1003C>T
NR_157174.2:n.875C>T
NR_157175.2:n.1029C>T
NR_157176.2:n.1169C>T
NR_157177.2:n.1024C>T
NR_157178.2:n.1029C>T