Canonical Allele Identifier: CA359159216

Gene: MTRR

Linked Data

• gnomAD v4: 5-7895755-A-G
• MyVariant Identifiers: chr5:g.7895868A>G (hg19) ; chr5:g.7895755A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7895755A>G , CM000667.2:g.7895755A>G	GRCh38
NC_000005.9:g.7895868A>G , CM000667.1:g.7895868A>G	GRCh37
NC_000005.8:g.7948868A>G	NCBI36
NG_008856.1:g.31652A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000440940.7:c.1579A>G MANE Select	ENSP00000402510.2:p.Thr527Ala
ENST00000264668.6:c.1660A>G	ENSP00000264668.2:p.Thr554Ala
ENST00000440940.6:c.1579A>G	ENSP00000402510.2:p.Thr527Ala
ENST00000510525.5:c.1515A>G
ENST00000511461.5:c.1492A>G
ENST00000513439.5:c.*1286A>G	ENSP00000426710.1:n.*1286A>G
NM_002454.2:c.1579A>G	NP_002445.2:p.Thr527Ala
NM_024010.2:c.1660A>G	NP_076915.2:p.Thr554Ala
XM_011514043.1:c.1660A>G	XP_011512345.1:p.Thr554Ala
XM_011514044.1:c.1579A>G	XP_011512346.1:p.Thr527Ala
XR_241702.1:n.1593A>G
XR_241703.1:n.1586A>G
XR_925614.1:n.1705A>G
NM_001364440.1:c.1579A>G	NP_001351369.1:p.Thr527Ala
NM_001364441.1:c.1579A>G	NP_001351370.1:p.Thr527Ala
NM_001364442.1:c.1579A>G	NP_001351371.1:p.Thr527Ala
NM_024010.3:c.1579A>G	NP_076915.3:p.Thr527Ala
NR_134480.1:n.1702A>G
NR_134481.1:n.1627A>G
NR_134482.1:n.1562A>G
NR_157168.1:n.1632A>G
NR_157169.1:n.1492A>G
NR_157170.1:n.1658A>G
NR_157171.1:n.1515A>G
NR_157172.1:n.1429A>G
NR_157173.1:n.1669A>G
NR_157174.1:n.1670A>G
NR_157175.1:n.1824A>G
NR_157176.1:n.1987A>G
NR_157177.1:n.1667A>G
NR_157178.1:n.1695A>G
XM_024446063.1:c.1624A>G	XP_024301831.1:p.Thr542Ala
XM_024446064.1:c.1579A>G	XP_024301832.1:p.Thr527Ala
XR_001742071.1:n.1857A>G
XR_001742072.1:n.1834A>G
XR_001742074.1:n.1593A>G
XR_001742075.1:n.1745A>G
XR_001742076.1:n.1822A>G
XR_001742077.1:n.1845A>G
NM_001364440.2:c.1579A>G	NP_001351369.1:p.Thr527Ala
NM_001364441.2:c.1579A>G	NP_001351370.1:p.Thr527Ala
NM_001364442.2:c.1579A>G	NP_001351371.1:p.Thr527Ala
NM_002454.3:c.1579A>G MANE Select	NP_002445.2:p.Thr527Ala
NM_024010.4:c.1579A>G	NP_076915.3:p.Thr527Ala
NR_134480.2:n.1658A>G
NR_134481.2:n.1583A>G
NR_134482.2:n.1518A>G
NR_157168.2:n.1632A>G
NR_157169.2:n.1492A>G
NR_157170.2:n.1658A>G
NR_157171.2:n.1515A>G
NR_157172.2:n.1429A>G
NR_157173.2:n.1669A>G
NR_157174.2:n.1670A>G
NR_157175.2:n.1824A>G
NR_157176.2:n.1987A>G
NR_157177.2:n.1667A>G
NR_157178.2:n.1695A>G