Canonical Allele Identifier: CA345374733
Gene: MTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236852561A>G , CM000663.2:g.236852561A>G GRCh38
NC_000001.10:g.237015861A>G , CM000663.1:g.237015861A>G GRCh37
NC_000001.9:g.235082484A>G NCBI36
NG_008959.1:g.62281A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366577.10:c.1736A>G MANE Select ENSP00000355536.5:p.Asn579Ser
ENST00000535889.6:c.1736A>G ENSP00000441845.1:p.Asn579Ser
ENST00000650888.1:c.*778A>G ENSP00000498393.1:n.*778A>G
ENST00000651455.1:c.*480A>G ENSP00000498963.1:n.*480A>G
ENST00000674797.2:c.1388A>G ENSP00000502299.2:p.Asn463Ser
ENST00000679569.1:n.2050A>G
ENST00000679842.1:c.1736A>G ENSP00000506109.1:p.Asn579Ser
ENST00000680454.1:n.2180A>G
ENST00000681102.1:c.1556A>G ENSP00000505600.1:p.Asn519Ser
ENST00000681177.1:c.1516-7272A>G ENSP00000506327.1:n.1516-7272A>G
ENST00000681937.1:n.2148-7272A>G
ENST00000366576.3:c.398A>G ENSP00000355535.3:p.Asn133Ser
ENST00000366577.9:c.1736A>G ENSP00000355536.5:p.Asn579Ser
ENST00000463959.1:n.1755A>G
ENST00000535889.5:c.1736A>G ENSP00000441845.1:p.Asn579Ser
NM_000254.2:c.1736A>G NP_000245.2:p.Asn579Ser
NM_001291939.1:c.1736A>G NP_001278868.1:p.Asn579Ser
NM_001291940.1:c.515A>G NP_001278869.1:p.Asn172Ser
XM_005273141.3:c.1733A>G XP_005273198.1:p.Asn578Ser
XM_006711769.2:c.1736A>G XP_006711832.1:p.Asn579Ser
XM_006711770.1:c.800A>G XP_006711833.1:p.Asn267Ser
XM_011544193.1:c.1736A>G XP_011542495.1:p.Asn579Ser
XM_011544194.1:c.1904A>G XP_011542496.1:p.Asn635Ser
XM_005273141.5:c.1733A>G XP_005273198.1:p.Asn578Ser
XM_006711770.3:c.800A>G XP_006711833.1:p.Asn267Ser
XM_011544194.3:c.1904A>G XP_011542496.1:p.Asn635Ser
XM_017001329.2:c.1904A>G XP_016856818.1:p.Asn635Ser
XM_017001330.2:c.1904A>G XP_016856819.1:p.Asn635Ser
NM_001291940.2:c.515A>G NP_001278869.1:p.Asn172Ser
NM_000254.3:c.1736A>G MANE Select NP_000245.2:p.Asn579Ser