Canonical Allele Identifier: CA443248061

Gene: MTRR

Linked Data

• MyVariant Identifiers: chr5:g.7878267T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7878154T>A , CM000667.2:g.7878154T>A	GRCh38
NC_000005.9:g.7878267T>A , CM000667.1:g.7878267T>A	GRCh37
NC_000005.8:g.7931267T>A	NCBI36
NG_008856.1:g.14051T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.612T>A MANE Select	ENSP00000402510.2:p.Ser204=
ENST00000264668.6:c.693T>A	ENSP00000264668.2:p.Ser231=
ENST00000440940.6:c.612T>A	ENSP00000402510.2:p.Ser204=
ENST00000510525.5:c.637T>A
ENST00000511461.5:c.525T>A
ENST00000513439.5:c.*319T>A	ENSP00000426710.1:n.*319T>A
ENST00000514220.5:c.397T>A
ENST00000514369.5:c.*276T>A	ENSP00000426132.1:n.*276T>A
NM_002454.2:c.612T>A	NP_002445.2:p.Ser204=
NM_024010.2:c.693T>A	NP_076915.2:p.Ser231=
XM_006714474.2:c.693T>A	XP_006714537.1:p.Ser231=
XM_011514043.1:c.693T>A	XP_011512345.1:p.Ser231=
XM_011514044.1:c.612T>A	XP_011512346.1:p.Ser204=
XM_011514045.1:c.693T>A	XP_011512347.1:p.Ser231=
XR_241702.1:n.715T>A
XR_241703.1:n.708T>A
XR_925614.1:n.715T>A
XR_925615.1:n.715T>A
NM_001364440.1:c.612T>A	NP_001351369.1:p.Ser204=
NM_001364441.1:c.612T>A	NP_001351370.1:p.Ser204=
NM_001364442.1:c.612T>A	NP_001351371.1:p.Ser204=
NM_024010.3:c.612T>A	NP_076915.3:p.Ser204=
NR_134480.1:n.735T>A
NR_134481.1:n.749T>A
NR_134482.1:n.595T>A
NR_157168.1:n.665T>A
NR_157169.1:n.525T>A
NR_157170.1:n.551T>A
NR_157171.1:n.525T>A
NR_157172.1:n.551T>A
NR_157173.1:n.679T>A
NR_157174.1:n.551T>A
NR_157175.1:n.705T>A
NR_157176.1:n.705T>A
NR_157177.1:n.700T>A
NR_157178.1:n.705T>A
XM_024446063.1:c.657T>A	XP_024301831.1:p.Ser219=
XM_024446064.1:c.612T>A	XP_024301832.1:p.Ser204=
XR_001742071.1:n.715T>A
XR_001742072.1:n.715T>A
XR_001742074.1:n.715T>A
XR_001742075.1:n.715T>A
XR_001742076.1:n.715T>A
XR_001742077.1:n.715T>A
NM_001364440.2:c.612T>A	NP_001351369.1:p.Ser204=
NM_001364441.2:c.612T>A	NP_001351370.1:p.Ser204=
NM_001364442.2:c.612T>A	NP_001351371.1:p.Ser204=
NM_002454.3:c.612T>A MANE Select	NP_002445.2:p.Ser204=
NM_024010.4:c.612T>A	NP_076915.3:p.Ser204=
NR_134480.2:n.691T>A
NR_134481.2:n.705T>A
NR_134482.2:n.551T>A
NR_157168.2:n.665T>A
NR_157169.2:n.525T>A
NR_157170.2:n.551T>A
NR_157171.2:n.525T>A
NR_157172.2:n.551T>A
NR_157173.2:n.679T>A
NR_157174.2:n.551T>A
NR_157175.2:n.705T>A
NR_157176.2:n.705T>A
NR_157177.2:n.700T>A
NR_157178.2:n.705T>A