Canonical Allele Identifier: CA345374914
Gene: MTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236852608C>T , CM000663.2:g.236852608C>T GRCh38
NC_000001.10:g.237015908C>T , CM000663.1:g.237015908C>T GRCh37
NC_000001.9:g.235082531C>T NCBI36
NG_008959.1:g.62328C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366577.10:c.1783C>T MANE Select ENSP00000355536.5:p.His595Tyr
ENST00000535889.6:c.1783C>T ENSP00000441845.1:p.His595Tyr
ENST00000650888.1:c.*825C>T ENSP00000498393.1:n.*825C>T
ENST00000651455.1:c.*527C>T ENSP00000498963.1:n.*527C>T
ENST00000674797.2:c.1435C>T ENSP00000502299.2:p.His479Tyr
ENST00000679569.1:n.2097C>T
ENST00000679842.1:c.1783C>T ENSP00000506109.1:p.His595Tyr
ENST00000680454.1:n.2227C>T
ENST00000681102.1:c.1603C>T ENSP00000505600.1:p.His535Tyr
ENST00000681177.1:c.1516-7225C>T ENSP00000506327.1:n.1516-7225C>T
ENST00000681937.1:n.2148-7225C>T
ENST00000366576.3:c.445C>T ENSP00000355535.3:p.His149Tyr
ENST00000366577.9:c.1783C>T ENSP00000355536.5:p.His595Tyr
ENST00000463959.1:n.1802C>T
ENST00000535889.5:c.1783C>T ENSP00000441845.1:p.His595Tyr
NM_000254.2:c.1783C>T NP_000245.2:p.His595Tyr
NM_001291939.1:c.1783C>T NP_001278868.1:p.His595Tyr
NM_001291940.1:c.562C>T NP_001278869.1:p.His188Tyr
XM_005273141.3:c.1780C>T XP_005273198.1:p.His594Tyr
XM_006711769.2:c.1783C>T XP_006711832.1:p.His595Tyr
XM_006711770.1:c.847C>T XP_006711833.1:p.His283Tyr
XM_011544193.1:c.1783C>T XP_011542495.1:p.His595Tyr
XM_011544194.1:c.1951C>T XP_011542496.1:p.His651Tyr
XM_005273141.5:c.1780C>T XP_005273198.1:p.His594Tyr
XM_006711770.3:c.847C>T XP_006711833.1:p.His283Tyr
XM_011544194.3:c.1951C>T XP_011542496.1:p.His651Tyr
XM_017001329.2:c.1951C>T XP_016856818.1:p.His651Tyr
XM_017001330.2:c.1951C>T XP_016856819.1:p.His651Tyr
NM_001291940.2:c.562C>T NP_001278869.1:p.His188Tyr
NM_000254.3:c.1783C>T MANE Select NP_000245.2:p.His595Tyr