Canonical Allele Identifier: CA10620881
Gene: MTRR HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.7901117T>C
GRCh37 chr5:g.7901230T>C
gnomAD v2:
5:7901230 T / C
gnomAD v3:
5:7901117 T / C
gnomAD v4:
chr5-7901117-T-C
Joint Max Group AF 0.28772216 (NFE)
Genomes Max Group AF 0.28772216 (NFE)
ClinVar RCV:
RCV000340298
ClinVar Variation:
354381
dbSNP:
10520873
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.7901117T>C , CM000667.2:g.7901117T>C GRCh38
NC_000005.9:g.7901230T>C , CM000667.1:g.7901230T>C GRCh37
NC_000005.8:g.7954230T>C NCBI36
NG_008856.1:g.37014T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264668.6:c.*1059T>C ENSP00000264668.2:n.*1059T>C
ENST00000440940.6:c.*1059T>C ENSP00000402510.2:n.*1059T>C
ENST00000506115.1:n.618T>C
ENST00000509379.1:n.51T>C
ENST00000511461.5:c.3069T>C
NM_002454.2:c.*1059T>C NP_002445.2:n.*1059T>C
NM_024010.2:c.*1059T>C NP_076915.2:n.*1059T>C
XM_011514044.1:c.*1059T>C XP_011512346.1:n.*1059T>C
XR_241703.1:n.3163T>C
XR_925614.1:n.3282T>C
NM_001364440.1:c.*1059T>C NP_001351369.1:n.*1059T>C
NM_001364441.1:c.*1059T>C NP_001351370.1:n.*1059T>C
NM_001364442.1:c.*1059T>C NP_001351371.1:n.*1059T>C
NM_024010.3:c.*1059T>C NP_076915.3:n.*1059T>C
NR_134480.1:n.3279T>C
NR_134481.1:n.3204T>C
NR_134482.1:n.3139T>C
NR_157168.1:n.3209T>C
NR_157169.1:n.3069T>C
NR_157170.1:n.3235T>C
NR_157171.1:n.3092T>C
NR_157172.1:n.3006T>C
NR_157173.1:n.3246T>C
NR_157174.1:n.3247T>C
NR_157175.1:n.3401T>C
NR_157176.1:n.3564T>C
NR_157177.1:n.3244T>C
NR_157178.1:n.3272T>C
XM_024446063.1:c.*1059T>C XP_024301831.1:n.*1059T>C
XM_024446064.1:c.*1059T>C XP_024301832.1:n.*1059T>C
XR_001742071.1:n.3434T>C
XR_001742072.1:n.3411T>C
XR_001742074.1:n.3170T>C
XR_001742075.1:n.3322T>C
XR_001742076.1:n.3399T>C
XR_001742077.1:n.3422T>C
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