Canonical Allele Identifier: CA3195913

Gene: MTRR

Linked Data

• dbSNP Id: rs768451288
• ExAC: 5:7891491 T / A
• gnomAD v2: 5-7891491-T-A
• gnomAD v4: 5-7891378-T-A
• MyVariant Identifiers: chr5:g.7891491T>A (hg19) ; chr5:g.7891378T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7891378T>A , CM000667.2:g.7891378T>A	GRCh38
NC_000005.9:g.7891491T>A , CM000667.1:g.7891491T>A	GRCh37
NC_000005.8:g.7944491T>A	NCBI36
NG_008856.1:g.27275T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.1334T>A MANE Select	ENSP00000402510.2:p.Leu445His
ENST00000264668.6:c.1415T>A	ENSP00000264668.2:p.Leu472His
ENST00000440940.6:c.1334T>A	ENSP00000402510.2:p.Leu445His
ENST00000507202.1:n.10T>A
ENST00000507414.1:n.74T>A
ENST00000508101.5:n.574T>A
ENST00000510525.5:c.1270T>A
ENST00000511461.5:c.1247T>A
ENST00000512311.5:n.313T>A
ENST00000513439.5:c.*1041T>A	ENSP00000426710.1:n.*1041T>A
NM_002454.2:c.1334T>A	NP_002445.2:p.Leu445His
NM_024010.2:c.1415T>A	NP_076915.2:p.Leu472His
XM_011514043.1:c.1415T>A	XP_011512345.1:p.Leu472His
XM_011514044.1:c.1334T>A	XP_011512346.1:p.Leu445His
XR_241702.1:n.1348T>A
XR_241703.1:n.1341T>A
XR_925614.1:n.1460T>A
XR_925615.1:n.1612T>A
NM_001364440.1:c.1334T>A	NP_001351369.1:p.Leu445His
NM_001364441.1:c.1334T>A	NP_001351370.1:p.Leu445His
NM_001364442.1:c.1334T>A	NP_001351371.1:p.Leu445His
NM_024010.3:c.1334T>A	NP_076915.3:p.Leu445His
NR_134480.1:n.1457T>A
NR_134481.1:n.1382T>A
NR_134482.1:n.1317T>A
NR_157168.1:n.1387T>A
NR_157169.1:n.1247T>A
NR_157170.1:n.1413T>A
NR_157171.1:n.1270T>A
NR_157172.1:n.1184T>A
NR_157173.1:n.1424T>A
NR_157174.1:n.1425T>A
NR_157175.1:n.1579T>A
NR_157176.1:n.1742T>A
NR_157177.1:n.1422T>A
NR_157178.1:n.1450T>A
XM_024446063.1:c.1379T>A	XP_024301831.1:p.Leu460His
XM_024446064.1:c.1334T>A	XP_024301832.1:p.Leu445His
XR_001742071.1:n.1612T>A
XR_001742072.1:n.1589T>A
XR_001742074.1:n.1348T>A
XR_001742075.1:n.1500T>A
XR_001742076.1:n.1577T>A
XR_001742077.1:n.1600T>A
NM_001364440.2:c.1334T>A	NP_001351369.1:p.Leu445His
NM_001364441.2:c.1334T>A	NP_001351370.1:p.Leu445His
NM_001364442.2:c.1334T>A	NP_001351371.1:p.Leu445His
NM_002454.3:c.1334T>A MANE Select	NP_002445.2:p.Leu445His
NM_024010.4:c.1334T>A	NP_076915.3:p.Leu445His
NR_134480.2:n.1413T>A
NR_134481.2:n.1338T>A
NR_134482.2:n.1273T>A
NR_157168.2:n.1387T>A
NR_157169.2:n.1247T>A
NR_157170.2:n.1413T>A
NR_157171.2:n.1270T>A
NR_157172.2:n.1184T>A
NR_157173.2:n.1424T>A
NR_157174.2:n.1425T>A
NR_157175.2:n.1579T>A
NR_157176.2:n.1742T>A
NR_157177.2:n.1422T>A
NR_157178.2:n.1450T>A