Canonical Allele Identifier: CA359159706
Gene: MTRR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.7897087A>C , CM000667.2:g.7897087A>C GRCh38
NC_000005.9:g.7897200A>C , CM000667.1:g.7897200A>C GRCh37
NC_000005.8:g.7950200A>C NCBI36
NG_008856.1:g.32984A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000440940.7:c.1792A>C MANE Select ENSP00000402510.2:p.Lys598Gln
ENST00000264668.6:c.1873A>C ENSP00000264668.2:p.Lys625Gln
ENST00000440940.6:c.1792A>C ENSP00000402510.2:p.Lys598Gln
ENST00000508354.1:n.543A>C
ENST00000510525.5:c.1728A>C
ENST00000511461.5:c.1705A>C
ENST00000513439.5:c.*1499A>C ENSP00000426710.1:n.*1499A>C
NM_002454.2:c.1792A>C NP_002445.2:p.Lys598Gln
NM_024010.2:c.1873A>C NP_076915.2:p.Lys625Gln
XM_011514043.1:c.1873A>C XP_011512345.1:p.Lys625Gln
XM_011514044.1:c.1792A>C XP_011512346.1:p.Lys598Gln
XR_241703.1:n.1799A>C
XR_925614.1:n.1918A>C
NM_001364440.1:c.1792A>C NP_001351369.1:p.Lys598Gln
NM_001364441.1:c.1792A>C NP_001351370.1:p.Lys598Gln
NM_001364442.1:c.1792A>C NP_001351371.1:p.Lys598Gln
NM_024010.3:c.1792A>C NP_076915.3:p.Lys598Gln
NR_134480.1:n.1915A>C
NR_134481.1:n.1840A>C
NR_134482.1:n.1775A>C
NR_157168.1:n.1845A>C
NR_157169.1:n.1705A>C
NR_157170.1:n.1871A>C
NR_157171.1:n.1728A>C
NR_157172.1:n.1642A>C
NR_157173.1:n.1882A>C
NR_157174.1:n.1883A>C
NR_157175.1:n.2037A>C
NR_157176.1:n.2200A>C
NR_157177.1:n.1880A>C
NR_157178.1:n.1908A>C
XM_024446063.1:c.1837A>C XP_024301831.1:p.Lys613Gln
XM_024446064.1:c.1792A>C XP_024301832.1:p.Lys598Gln
XR_001742071.1:n.2070A>C
XR_001742072.1:n.2047A>C
XR_001742074.1:n.1806A>C
XR_001742075.1:n.1958A>C
XR_001742076.1:n.2035A>C
XR_001742077.1:n.2058A>C
NM_001364440.2:c.1792A>C NP_001351369.1:p.Lys598Gln
NM_001364441.2:c.1792A>C NP_001351370.1:p.Lys598Gln
NM_001364442.2:c.1792A>C NP_001351371.1:p.Lys598Gln
NM_002454.3:c.1792A>C MANE Select NP_002445.2:p.Lys598Gln
NM_024010.4:c.1792A>C NP_076915.3:p.Lys598Gln
NR_134480.2:n.1871A>C
NR_134481.2:n.1796A>C
NR_134482.2:n.1731A>C
NR_157168.2:n.1845A>C
NR_157169.2:n.1705A>C
NR_157170.2:n.1871A>C
NR_157171.2:n.1728A>C
NR_157172.2:n.1642A>C
NR_157173.2:n.1882A>C
NR_157174.2:n.1883A>C
NR_157175.2:n.2037A>C
NR_157176.2:n.2200A>C
NR_157177.2:n.1880A>C
NR_157178.2:n.1908A>C