Canonical Allele Identifier: CA359157161
Gene: MTRR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.7878181C>G , CM000667.2:g.7878181C>G GRCh38
NC_000005.9:g.7878294C>G , CM000667.1:g.7878294C>G GRCh37
NC_000005.8:g.7931294C>G NCBI36
NG_008856.1:g.14078C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000440940.7:c.639C>G MANE Select ENSP00000402510.2:p.Asn213Lys
ENST00000264668.6:c.720C>G ENSP00000264668.2:p.Asn240Lys
ENST00000440940.6:c.639C>G ENSP00000402510.2:p.Asn213Lys
ENST00000510525.5:c.664C>G
ENST00000511461.5:c.552C>G
ENST00000513439.5:c.*346C>G ENSP00000426710.1:n.*346C>G
ENST00000514220.5:c.424C>G
ENST00000514369.5:c.*303C>G ENSP00000426132.1:n.*303C>G
NM_002454.2:c.639C>G NP_002445.2:p.Asn213Lys
NM_024010.2:c.720C>G NP_076915.2:p.Asn240Lys
XM_006714474.2:c.720C>G XP_006714537.1:p.Asn240Lys
XM_011514043.1:c.720C>G XP_011512345.1:p.Asn240Lys
XM_011514044.1:c.639C>G XP_011512346.1:p.Asn213Lys
XM_011514045.1:c.720C>G XP_011512347.1:p.Asn240Lys
XR_241702.1:n.742C>G
XR_241703.1:n.735C>G
XR_925614.1:n.742C>G
XR_925615.1:n.742C>G
NM_001364440.1:c.639C>G NP_001351369.1:p.Asn213Lys
NM_001364441.1:c.639C>G NP_001351370.1:p.Asn213Lys
NM_001364442.1:c.639C>G NP_001351371.1:p.Asn213Lys
NM_024010.3:c.639C>G NP_076915.3:p.Asn213Lys
NR_134480.1:n.762C>G
NR_134481.1:n.776C>G
NR_134482.1:n.622C>G
NR_157168.1:n.692C>G
NR_157169.1:n.552C>G
NR_157170.1:n.578C>G
NR_157171.1:n.552C>G
NR_157172.1:n.578C>G
NR_157173.1:n.706C>G
NR_157174.1:n.578C>G
NR_157175.1:n.732C>G
NR_157176.1:n.732C>G
NR_157177.1:n.727C>G
NR_157178.1:n.732C>G
XM_024446063.1:c.684C>G XP_024301831.1:p.Asn228Lys
XM_024446064.1:c.639C>G XP_024301832.1:p.Asn213Lys
XR_001742071.1:n.742C>G
XR_001742072.1:n.742C>G
XR_001742074.1:n.742C>G
XR_001742075.1:n.742C>G
XR_001742076.1:n.742C>G
XR_001742077.1:n.742C>G
NM_001364440.2:c.639C>G NP_001351369.1:p.Asn213Lys
NM_001364441.2:c.639C>G NP_001351370.1:p.Asn213Lys
NM_001364442.2:c.639C>G NP_001351371.1:p.Asn213Lys
NM_002454.3:c.639C>G MANE Select NP_002445.2:p.Asn213Lys
NM_024010.4:c.639C>G NP_076915.3:p.Asn213Lys
NR_134480.2:n.718C>G
NR_134481.2:n.732C>G
NR_134482.2:n.578C>G
NR_157168.2:n.692C>G
NR_157169.2:n.552C>G
NR_157170.2:n.578C>G
NR_157171.2:n.552C>G
NR_157172.2:n.578C>G
NR_157173.2:n.706C>G
NR_157174.2:n.578C>G
NR_157175.2:n.732C>G
NR_157176.2:n.732C>G
NR_157177.2:n.727C>G
NR_157178.2:n.732C>G