Canonical Allele Identifier: CA2739684896
Gene: MTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236795596G>T , CM000663.2:g.236795596G>T GRCh38
NC_000001.10:g.236958896G>T , CM000663.1:g.236958896G>T GRCh37
NC_000001.9:g.235025519G>T NCBI36
NG_008959.1:g.5316G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366577.10:c.-108G>T MANE Select ENSP00000355536.5:n.-108G>T
ENST00000650888.1:c.-108G>T ENSP00000498393.1:n.-108G>T
ENST00000652435.1:c.-241G>T ENSP00000505932.1:n.-241G>T
ENST00000674797.2:c.-241G>T ENSP00000502299.2:n.-241G>T
ENST00000679569.1:n.210G>T
ENST00000680454.1:n.337G>T
ENST00000366577.9:c.-108G>T ENSP00000355536.5:n.-108G>T
ENST00000535889.5:c.-108G>T ENSP00000441845.1:n.-108G>T
NM_000254.2:c.-108G>T NP_000245.2:n.-108G>T
NM_001291939.1:c.-108G>T NP_001278868.1:n.-108G>T
NM_001291940.1:c.-1216G>T NP_001278869.1:n.-1216G>T
XM_005273141.3:c.-108G>T XP_005273198.1:n.-108G>T
XM_006711769.2:c.-108G>T XP_006711832.1:n.-108G>T
XM_011544193.1:c.-108G>T XP_011542495.1:n.-108G>T
XM_011544194.1:c.276G>T XP_011542496.1:p.Leu92Phe
XM_005273141.5:c.-108G>T XP_005273198.1:n.-108G>T
XM_011544194.3:c.276G>T XP_011542496.1:p.Leu92Phe
XM_017001329.2:c.276G>T XP_016856818.1:p.Leu92Phe
XM_017001330.2:c.276G>T XP_016856819.1:p.Leu92Phe
NM_001291940.2:c.-1216G>T NP_001278869.1:n.-1216G>T
NM_000254.3:c.-108G>T MANE Select NP_000245.2:n.-108G>T