Canonical Allele Identifier: CA39745182
Gene: MTR HGNC NCBI

Linked Data

dbSNP Id: rs55693346

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236852658G>A , CM000663.2:g.236852658G>A GRCh38
NC_000001.10:g.237015958G>A , CM000663.1:g.237015958G>A GRCh37
NC_000001.9:g.235082581G>A NCBI36
NG_008959.1:g.62378G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366577.10:c.1812+21G>A MANE Select ENSP00000355536.5:n.1812+21G>A
ENST00000535889.6:c.1812+21G>A ENSP00000441845.1:n.1812+21G>A
ENST00000650888.1:c.*854+21G>A ENSP00000498393.1:n.*854+21G>A
ENST00000651455.1:c.*556+21G>A ENSP00000498963.1:n.*556+21G>A
ENST00000674797.2:c.1464+21G>A ENSP00000502299.2:n.1464+21G>A
ENST00000679569.1:n.2126+21G>A
ENST00000679842.1:c.1812+21G>A ENSP00000506109.1:n.1812+21G>A
ENST00000680454.1:n.2256+21G>A
ENST00000681102.1:c.1632+21G>A ENSP00000505600.1:n.1632+21G>A
ENST00000681177.1:c.1516-7175G>A ENSP00000506327.1:n.1516-7175G>A
ENST00000681937.1:n.2148-7175G>A
ENST00000366576.3:c.474+21G>A ENSP00000355535.3:n.474+21G>A
ENST00000366577.9:c.1812+21G>A ENSP00000355536.5:n.1812+21G>A
ENST00000463959.1:n.1831+21G>A
ENST00000535889.5:c.1812+21G>A ENSP00000441845.1:n.1812+21G>A
NM_000254.2:c.1812+21G>A NP_000245.2:n.1812+21G>A
NM_001291939.1:c.1812+21G>A NP_001278868.1:n.1812+21G>A
NM_001291940.1:c.591+21G>A NP_001278869.1:n.591+21G>A
XM_005273141.3:c.1809+21G>A XP_005273198.1:n.1809+21G>A
XM_006711769.2:c.1812+21G>A XP_006711832.1:n.1812+21G>A
XM_006711770.1:c.876+21G>A XP_006711833.1:n.876+21G>A
XM_011544193.1:c.1812+21G>A XP_011542495.1:n.1812+21G>A
XM_011544194.1:c.1980+21G>A XP_011542496.1:n.1980+21G>A
XM_005273141.5:c.1809+21G>A XP_005273198.1:n.1809+21G>A
XM_006711770.3:c.876+21G>A XP_006711833.1:n.876+21G>A
XM_011544194.3:c.1980+21G>A XP_011542496.1:n.1980+21G>A
XM_017001329.2:c.1980+21G>A XP_016856818.1:n.1980+21G>A
XM_017001330.2:c.1980+21G>A XP_016856819.1:n.1980+21G>A
NM_001291940.2:c.591+21G>A NP_001278869.1:n.591+21G>A
NM_000254.3:c.1812+21G>A MANE Select NP_000245.2:n.1812+21G>A