Canonical Allele Identifier: CA359157738
Gene: MTRR HGNC NCBI

Linked Data

gnomAD v4: 5-7885702-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.7885702A>G , CM000667.2:g.7885702A>G GRCh38
NC_000005.9:g.7885815A>G , CM000667.1:g.7885815A>G GRCh37
NC_000005.8:g.7938815A>G NCBI36
NG_008856.1:g.21599A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000440940.7:c.905A>G MANE Select ENSP00000402510.2:p.Asn302Ser
ENST00000264668.6:c.986A>G ENSP00000264668.2:p.Asn329Ser
ENST00000440940.6:c.905A>G ENSP00000402510.2:p.Asn302Ser
ENST00000508101.5:n.145A>G
ENST00000510525.5:c.930A>G
ENST00000511461.5:c.818A>G
ENST00000513439.5:c.*612A>G ENSP00000426710.1:n.*612A>G
NM_002454.2:c.905A>G NP_002445.2:p.Asn302Ser
NM_024010.2:c.986A>G NP_076915.2:p.Asn329Ser
XM_006714474.2:c.986A>G XP_006714537.1:p.Asn329Ser
XM_011514043.1:c.986A>G XP_011512345.1:p.Asn329Ser
XM_011514044.1:c.905A>G XP_011512346.1:p.Asn302Ser
XM_011514045.1:c.1126A>G XP_011512347.1:p.Ile376Val
XR_241702.1:n.1008A>G
XR_241703.1:n.1001A>G
XR_925614.1:n.1008A>G
XR_925615.1:n.1008A>G
NM_001364440.1:c.905A>G NP_001351369.1:p.Asn302Ser
NM_001364441.1:c.905A>G NP_001351370.1:p.Asn302Ser
NM_001364442.1:c.905A>G NP_001351371.1:p.Asn302Ser
NM_024010.3:c.905A>G NP_076915.3:p.Asn302Ser
NR_134480.1:n.1028A>G
NR_134481.1:n.1042A>G
NR_134482.1:n.888A>G
NR_157168.1:n.958A>G
NR_157169.1:n.818A>G
NR_157170.1:n.984A>G
NR_157171.1:n.818A>G
NR_157172.1:n.844A>G
NR_157173.1:n.972A>G
NR_157174.1:n.844A>G
NR_157175.1:n.998A>G
NR_157176.1:n.1138A>G
NR_157177.1:n.993A>G
NR_157178.1:n.998A>G
XM_024446063.1:c.950A>G XP_024301831.1:p.Asn317Ser
XM_024446064.1:c.905A>G XP_024301832.1:p.Asn302Ser
XR_001742071.1:n.1008A>G
XR_001742072.1:n.1008A>G
XR_001742074.1:n.1008A>G
XR_001742075.1:n.1008A>G
XR_001742076.1:n.1148A>G
XR_001742077.1:n.1148A>G
NM_001364440.2:c.905A>G NP_001351369.1:p.Asn302Ser
NM_001364441.2:c.905A>G NP_001351370.1:p.Asn302Ser
NM_001364442.2:c.905A>G NP_001351371.1:p.Asn302Ser
NM_002454.3:c.905A>G MANE Select NP_002445.2:p.Asn302Ser
NM_024010.4:c.905A>G NP_076915.3:p.Asn302Ser
NR_134480.2:n.984A>G
NR_134481.2:n.998A>G
NR_134482.2:n.844A>G
NR_157168.2:n.958A>G
NR_157169.2:n.818A>G
NR_157170.2:n.984A>G
NR_157171.2:n.818A>G
NR_157172.2:n.844A>G
NR_157173.2:n.972A>G
NR_157174.2:n.844A>G
NR_157175.2:n.998A>G
NR_157176.2:n.1138A>G
NR_157177.2:n.993A>G
NR_157178.2:n.998A>G