Canonical Allele Identifier: CA3195659

Gene: MTRR

Linked Data

• dbSNP Id: rs781748543
• ExAC: 5:7878305 C / G
• gnomAD v2: 5-7878305-C-G
• gnomAD v4: 5-7878192-C-G
• MyVariant Identifiers: chr5:g.7878305C>G (hg19) ; chr5:g.7878192C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7878192C>G , CM000667.2:g.7878192C>G	GRCh38
NC_000005.9:g.7878305C>G , CM000667.1:g.7878305C>G	GRCh37
NC_000005.8:g.7931305C>G	NCBI36
NG_008856.1:g.14089C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.650C>G MANE Select	ENSP00000402510.2:p.Ser217Cys
ENST00000264668.6:c.731C>G	ENSP00000264668.2:p.Ser244Cys
ENST00000440940.6:c.650C>G	ENSP00000402510.2:p.Ser217Cys
ENST00000510525.5:c.675C>G
ENST00000511461.5:c.563C>G
ENST00000513439.5:c.*357C>G	ENSP00000426710.1:n.*357C>G
ENST00000514220.5:c.435C>G
ENST00000514369.5:c.*314C>G	ENSP00000426132.1:n.*314C>G
NM_002454.2:c.650C>G	NP_002445.2:p.Ser217Cys
NM_024010.2:c.731C>G	NP_076915.2:p.Ser244Cys
XM_006714474.2:c.731C>G	XP_006714537.1:p.Ser244Cys
XM_011514043.1:c.731C>G	XP_011512345.1:p.Ser244Cys
XM_011514044.1:c.650C>G	XP_011512346.1:p.Ser217Cys
XM_011514045.1:c.731C>G	XP_011512347.1:p.Ser244Cys
XR_241702.1:n.753C>G
XR_241703.1:n.746C>G
XR_925614.1:n.753C>G
XR_925615.1:n.753C>G
NM_001364440.1:c.650C>G	NP_001351369.1:p.Ser217Cys
NM_001364441.1:c.650C>G	NP_001351370.1:p.Ser217Cys
NM_001364442.1:c.650C>G	NP_001351371.1:p.Ser217Cys
NM_024010.3:c.650C>G	NP_076915.3:p.Ser217Cys
NR_134480.1:n.773C>G
NR_134481.1:n.787C>G
NR_134482.1:n.633C>G
NR_157168.1:n.703C>G
NR_157169.1:n.563C>G
NR_157170.1:n.589C>G
NR_157171.1:n.563C>G
NR_157172.1:n.589C>G
NR_157173.1:n.717C>G
NR_157174.1:n.589C>G
NR_157175.1:n.743C>G
NR_157176.1:n.743C>G
NR_157177.1:n.738C>G
NR_157178.1:n.743C>G
XM_024446063.1:c.695C>G	XP_024301831.1:p.Ser232Cys
XM_024446064.1:c.650C>G	XP_024301832.1:p.Ser217Cys
XR_001742071.1:n.753C>G
XR_001742072.1:n.753C>G
XR_001742074.1:n.753C>G
XR_001742075.1:n.753C>G
XR_001742076.1:n.753C>G
XR_001742077.1:n.753C>G
NM_001364440.2:c.650C>G	NP_001351369.1:p.Ser217Cys
NM_001364441.2:c.650C>G	NP_001351370.1:p.Ser217Cys
NM_001364442.2:c.650C>G	NP_001351371.1:p.Ser217Cys
NM_002454.3:c.650C>G MANE Select	NP_002445.2:p.Ser217Cys
NM_024010.4:c.650C>G	NP_076915.3:p.Ser217Cys
NR_134480.2:n.729C>G
NR_134481.2:n.743C>G
NR_134482.2:n.589C>G
NR_157168.2:n.703C>G
NR_157169.2:n.563C>G
NR_157170.2:n.589C>G
NR_157171.2:n.563C>G
NR_157172.2:n.589C>G
NR_157173.2:n.717C>G
NR_157174.2:n.589C>G
NR_157175.2:n.743C>G
NR_157176.2:n.743C>G
NR_157177.2:n.738C>G
NR_157178.2:n.743C>G