Canonical Allele Identifier: CA10794119
Gene: MTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236896158G>C , CM000663.2:g.236896158G>C GRCh38
NC_000001.10:g.237059458G>C , CM000663.1:g.237059458G>C GRCh37
NC_000001.9:g.235126081G>C NCBI36
NG_008959.1:g.105878G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366577.10:c.3598+608G>C MANE Select ENSP00000355536.5:n.3598+608G>C
ENST00000470570.2:n.4328+608G>C
ENST00000535889.6:c.3445+608G>C ENSP00000441845.1:n.3445+608G>C
ENST00000650888.1:c.*2640+608G>C ENSP00000498393.1:n.*2640+608G>C
ENST00000651455.1:c.*2342+608G>C ENSP00000498963.1:n.*2342+608G>C
ENST00000674797.2:c.3250+608G>C ENSP00000502299.2:n.3250+608G>C
ENST00000679569.1:n.6725+608G>C
ENST00000679842.1:c.3409+608G>C ENSP00000506109.1:n.3409+608G>C
ENST00000680454.1:n.6855+608G>C
ENST00000681102.1:c.3418+608G>C ENSP00000505600.1:n.3418+608G>C
ENST00000681177.1:c.3160+608G>C ENSP00000506327.1:n.3160+608G>C
ENST00000681937.1:n.3792+608G>C
ENST00000366576.3:c.2260+608G>C ENSP00000355535.3:n.2260+608G>C
ENST00000366577.9:c.3598+608G>C ENSP00000355536.5:n.3598+608G>C
ENST00000470570.1:n.1210+608G>C
ENST00000535889.5:c.3445+608G>C ENSP00000441845.1:n.3445+608G>C
NM_000254.2:c.3598+608G>C NP_000245.2:n.3598+608G>C
NM_001291939.1:c.3445+608G>C NP_001278868.1:n.3445+608G>C
NM_001291940.1:c.2377+608G>C NP_001278869.1:n.2377+608G>C
XM_005273141.3:c.3595+608G>C XP_005273198.1:n.3595+608G>C
XM_006711770.1:c.2662+608G>C XP_006711833.1:n.2662+608G>C
XM_011544193.1:c.3409+608G>C XP_011542495.1:n.3409+608G>C
XM_011544194.1:c.3766+608G>C XP_011542496.1:n.3766+608G>C
XM_005273141.5:c.3595+608G>C XP_005273198.1:n.3595+608G>C
XM_006711770.3:c.2662+608G>C XP_006711833.1:n.2662+608G>C
XM_011544194.3:c.3766+608G>C XP_011542496.1:n.3766+608G>C
XM_017001329.2:c.3613+608G>C XP_016856818.1:n.3613+608G>C
XM_017001330.2:c.3577+608G>C XP_016856819.1:n.3577+608G>C
NM_001291940.2:c.2377+608G>C NP_001278869.1:n.2377+608G>C
NM_000254.3:c.3598+608G>C MANE Select NP_000245.2:n.3598+608G>C