Canonical Allele Identifier: CA10609500
Gene: MTR HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236899132T>C , CM000663.2:g.236899132T>C GRCh38
NC_000001.10:g.237062432T>C , CM000663.1:g.237062432T>C GRCh37
NC_000001.9:g.235129055T>C NCBI36
NG_008959.1:g.108852T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366577.10:c.*1488T>C MANE Select ENSP00000355536.5:n.*1488T>C
ENST00000470570.2:n.6016T>C
ENST00000650888.1:c.*4305+23T>C ENSP00000498393.1:n.*4305+23T>C
ENST00000652483.1:n.587+23T>C
ENST00000674797.2:c.*1488T>C ENSP00000502299.2:n.*1488T>C
ENST00000679569.1:n.8413T>C
ENST00000680454.1:n.8543T>C
ENST00000681813.1:n.1106+23T>C
ENST00000681937.1:n.5480T>C
ENST00000366576.3:c.3948T>C ENSP00000355535.3:n.3948T>C
ENST00000366577.9:c.*1488T>C ENSP00000355536.5:n.*1488T>C
ENST00000470570.1:n.2898T>C
ENST00000535889.5:c.*1488T>C ENSP00000441845.1:n.*1488T>C
NM_000254.2:c.*1488T>C NP_000245.2:n.*1488T>C
NM_001291939.1:c.*1488T>C NP_001278868.1:n.*1488T>C
NM_001291940.1:c.*1488T>C NP_001278869.1:n.*1488T>C
XM_005273141.3:c.*1488T>C XP_005273198.1:n.*1488T>C
XM_006711770.1:c.*1488T>C XP_006711833.1:n.*1488T>C
XM_011544193.1:c.*1488T>C XP_011542495.1:n.*1488T>C
XM_011544194.1:c.*1488T>C XP_011542496.1:n.*1488T>C
XM_005273141.5:c.*1488T>C XP_005273198.1:n.*1488T>C
XM_006711770.3:c.*1488T>C XP_006711833.1:n.*1488T>C
XM_011544194.3:c.*1488T>C XP_011542496.1:n.*1488T>C
XM_017001329.2:c.*1488T>C XP_016856818.1:n.*1488T>C
XM_017001330.2:c.*1488T>C XP_016856819.1:n.*1488T>C
NM_001291940.2:c.*1488T>C NP_001278869.1:n.*1488T>C
NM_000254.3:c.*1488T>C MANE Select NP_000245.2:n.*1488T>C