Canonical Allele Identifier: CA345374853
Gene: MTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236852591C>A , CM000663.2:g.236852591C>A GRCh38
NC_000001.10:g.237015891C>A , CM000663.1:g.237015891C>A GRCh37
NC_000001.9:g.235082514C>A NCBI36
NG_008959.1:g.62311C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366577.10:c.1766C>A MANE Select ENSP00000355536.5:p.Ala589Asp
ENST00000535889.6:c.1766C>A ENSP00000441845.1:p.Ala589Asp
ENST00000650888.1:c.*808C>A ENSP00000498393.1:n.*808C>A
ENST00000651455.1:c.*510C>A ENSP00000498963.1:n.*510C>A
ENST00000674797.2:c.1418C>A ENSP00000502299.2:p.Ala473Asp
ENST00000679569.1:n.2080C>A
ENST00000679842.1:c.1766C>A ENSP00000506109.1:p.Ala589Asp
ENST00000680454.1:n.2210C>A
ENST00000681102.1:c.1586C>A ENSP00000505600.1:p.Ala529Asp
ENST00000681177.1:c.1516-7242C>A ENSP00000506327.1:n.1516-7242C>A
ENST00000681937.1:n.2148-7242C>A
ENST00000366576.3:c.428C>A ENSP00000355535.3:p.Ala143Asp
ENST00000366577.9:c.1766C>A ENSP00000355536.5:p.Ala589Asp
ENST00000463959.1:n.1785C>A
ENST00000535889.5:c.1766C>A ENSP00000441845.1:p.Ala589Asp
NM_000254.2:c.1766C>A NP_000245.2:p.Ala589Asp
NM_001291939.1:c.1766C>A NP_001278868.1:p.Ala589Asp
NM_001291940.1:c.545C>A NP_001278869.1:p.Ala182Asp
XM_005273141.3:c.1763C>A XP_005273198.1:p.Ala588Asp
XM_006711769.2:c.1766C>A XP_006711832.1:p.Ala589Asp
XM_006711770.1:c.830C>A XP_006711833.1:p.Ala277Asp
XM_011544193.1:c.1766C>A XP_011542495.1:p.Ala589Asp
XM_011544194.1:c.1934C>A XP_011542496.1:p.Ala645Asp
XM_005273141.5:c.1763C>A XP_005273198.1:p.Ala588Asp
XM_006711770.3:c.830C>A XP_006711833.1:p.Ala277Asp
XM_011544194.3:c.1934C>A XP_011542496.1:p.Ala645Asp
XM_017001329.2:c.1934C>A XP_016856818.1:p.Ala645Asp
XM_017001330.2:c.1934C>A XP_016856819.1:p.Ala645Asp
NM_001291940.2:c.545C>A NP_001278869.1:p.Ala182Asp
NM_000254.3:c.1766C>A MANE Select NP_000245.2:p.Ala589Asp