Canonical Allele Identifier: CA443129296

Gene: MTRR

Linked Data

• MyVariant Identifiers: chr5:g.7891489T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7891376T>C , CM000667.2:g.7891376T>C	GRCh38
NC_000005.9:g.7891489T>C , CM000667.1:g.7891489T>C	GRCh37
NC_000005.8:g.7944489T>C	NCBI36
NG_008856.1:g.27273T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.1332T>C MANE Select	ENSP00000402510.2:p.His444=
ENST00000264668.6:c.1413T>C	ENSP00000264668.2:p.His471=
ENST00000440940.6:c.1332T>C	ENSP00000402510.2:p.His444=
ENST00000507202.1:n.8T>C
ENST00000507414.1:n.72T>C
ENST00000508101.5:n.572T>C
ENST00000510525.5:c.1268T>C
ENST00000511461.5:c.1245T>C
ENST00000512311.5:n.311T>C
ENST00000513439.5:c.*1039T>C	ENSP00000426710.1:n.*1039T>C
NM_002454.2:c.1332T>C	NP_002445.2:p.His444=
NM_024010.2:c.1413T>C	NP_076915.2:p.His471=
XM_011514043.1:c.1413T>C	XP_011512345.1:p.His471=
XM_011514044.1:c.1332T>C	XP_011512346.1:p.His444=
XR_241702.1:n.1346T>C
XR_241703.1:n.1339T>C
XR_925614.1:n.1458T>C
XR_925615.1:n.1610T>C
NM_001364440.1:c.1332T>C	NP_001351369.1:p.His444=
NM_001364441.1:c.1332T>C	NP_001351370.1:p.His444=
NM_001364442.1:c.1332T>C	NP_001351371.1:p.His444=
NM_024010.3:c.1332T>C	NP_076915.3:p.His444=
NR_134480.1:n.1455T>C
NR_134481.1:n.1380T>C
NR_134482.1:n.1315T>C
NR_157168.1:n.1385T>C
NR_157169.1:n.1245T>C
NR_157170.1:n.1411T>C
NR_157171.1:n.1268T>C
NR_157172.1:n.1182T>C
NR_157173.1:n.1422T>C
NR_157174.1:n.1423T>C
NR_157175.1:n.1577T>C
NR_157176.1:n.1740T>C
NR_157177.1:n.1420T>C
NR_157178.1:n.1448T>C
XM_024446063.1:c.1377T>C	XP_024301831.1:p.His459=
XM_024446064.1:c.1332T>C	XP_024301832.1:p.His444=
XR_001742071.1:n.1610T>C
XR_001742072.1:n.1587T>C
XR_001742074.1:n.1346T>C
XR_001742075.1:n.1498T>C
XR_001742076.1:n.1575T>C
XR_001742077.1:n.1598T>C
NM_001364440.2:c.1332T>C	NP_001351369.1:p.His444=
NM_001364441.2:c.1332T>C	NP_001351370.1:p.His444=
NM_001364442.2:c.1332T>C	NP_001351371.1:p.His444=
NM_002454.3:c.1332T>C MANE Select	NP_002445.2:p.His444=
NM_024010.4:c.1332T>C	NP_076915.3:p.His444=
NR_134480.2:n.1411T>C
NR_134481.2:n.1336T>C
NR_134482.2:n.1271T>C
NR_157168.2:n.1385T>C
NR_157169.2:n.1245T>C
NR_157170.2:n.1411T>C
NR_157171.2:n.1268T>C
NR_157172.2:n.1182T>C
NR_157173.2:n.1422T>C
NR_157174.2:n.1423T>C
NR_157175.2:n.1577T>C
NR_157176.2:n.1740T>C
NR_157177.2:n.1420T>C
NR_157178.2:n.1448T>C