Canonical Allele Identifier: CA359157814

Gene: MTRR

Linked Data

• gnomAD v4: 5-7885738-G-A
• MyVariant Identifiers: chr5:g.7885851G>A (hg19) ; chr5:g.7885738G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7885738G>A , CM000667.2:g.7885738G>A	GRCh38
NC_000005.9:g.7885851G>A , CM000667.1:g.7885851G>A	GRCh37
NC_000005.8:g.7938851G>A	NCBI36
NG_008856.1:g.21635G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.941G>A MANE Select	ENSP00000402510.2:p.Ser314Asn
ENST00000264668.6:c.1022G>A	ENSP00000264668.2:p.Ser341Asn
ENST00000440940.6:c.941G>A	ENSP00000402510.2:p.Ser314Asn
ENST00000508101.5:n.181G>A
ENST00000510525.5:c.966G>A
ENST00000511461.5:c.854G>A
ENST00000513439.5:c.*648G>A	ENSP00000426710.1:n.*648G>A
NM_002454.2:c.941G>A	NP_002445.2:p.Ser314Asn
NM_024010.2:c.1022G>A	NP_076915.2:p.Ser341Asn
XM_006714474.2:c.1022G>A	XP_006714537.1:p.Ser341Asn
XM_011514043.1:c.1022G>A	XP_011512345.1:p.Ser341Asn
XM_011514044.1:c.941G>A	XP_011512346.1:p.Ser314Asn
XM_011514045.1:c.1162G>A	XP_011512347.1:p.Ala388Thr
XR_241702.1:n.1044G>A
XR_241703.1:n.1037G>A
XR_925614.1:n.1044G>A
XR_925615.1:n.1044G>A
NM_001364440.1:c.941G>A	NP_001351369.1:p.Ser314Asn
NM_001364441.1:c.941G>A	NP_001351370.1:p.Ser314Asn
NM_001364442.1:c.941G>A	NP_001351371.1:p.Ser314Asn
NM_024010.3:c.941G>A	NP_076915.3:p.Ser314Asn
NR_134480.1:n.1064G>A
NR_134481.1:n.1078G>A
NR_134482.1:n.924G>A
NR_157168.1:n.994G>A
NR_157169.1:n.854G>A
NR_157170.1:n.1020G>A
NR_157171.1:n.854G>A
NR_157172.1:n.880G>A
NR_157173.1:n.1008G>A
NR_157174.1:n.880G>A
NR_157175.1:n.1034G>A
NR_157176.1:n.1174G>A
NR_157177.1:n.1029G>A
NR_157178.1:n.1034G>A
XM_024446063.1:c.986G>A	XP_024301831.1:p.Ser329Asn
XM_024446064.1:c.941G>A	XP_024301832.1:p.Ser314Asn
XR_001742071.1:n.1044G>A
XR_001742072.1:n.1044G>A
XR_001742074.1:n.1044G>A
XR_001742075.1:n.1044G>A
XR_001742076.1:n.1184G>A
XR_001742077.1:n.1184G>A
NM_001364440.2:c.941G>A	NP_001351369.1:p.Ser314Asn
NM_001364441.2:c.941G>A	NP_001351370.1:p.Ser314Asn
NM_001364442.2:c.941G>A	NP_001351371.1:p.Ser314Asn
NM_002454.3:c.941G>A MANE Select	NP_002445.2:p.Ser314Asn
NM_024010.4:c.941G>A	NP_076915.3:p.Ser314Asn
NR_134480.2:n.1020G>A
NR_134481.2:n.1034G>A
NR_134482.2:n.880G>A
NR_157168.2:n.994G>A
NR_157169.2:n.854G>A
NR_157170.2:n.1020G>A
NR_157171.2:n.854G>A
NR_157172.2:n.880G>A
NR_157173.2:n.1008G>A
NR_157174.2:n.880G>A
NR_157175.2:n.1034G>A
NR_157176.2:n.1174G>A
NR_157177.2:n.1029G>A
NR_157178.2:n.1034G>A