Canonical Allele Identifier: CA1141581506
Community Standard Title: NM_000254.3(MTR):c.1228G= (p.Ala410=)
Gene: MTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236835586G= , CM000663.2:g.236835586G= GRCh38
NC_000001.10:g.236998886G= , CM000663.1:g.236998886G= GRCh37
NC_000001.9:g.235065509G= NCBI36
NG_008959.1:g.45306G=

Transcript Alleles

HGVS Amino-acid Change
NM_000254.3:c.1228G= MANE Select NP_000245.2:p.Ala410=
ENST00000366577.10:c.1228G= MANE Select ENSP00000355536.5:p.Ala410=
NM_000254.2:c.1228G= NP_000245.2:p.Ala410=
NM_001291939.1:c.1228G= NP_001278868.1:p.Ala410=
NM_001291940.1:c.7G= NP_001278869.1:p.Ala3=
NM_001291940.2:c.7G= NP_001278869.1:p.Ala3=
ENST00000366577.9:c.1228G= ENSP00000355536.5:p.Ala410=
ENST00000463959.1:n.1247G=
ENST00000535889.5:c.1228G= ENSP00000441845.1:p.Ala410=
ENST00000535889.6:c.1228G= ENSP00000441845.1:p.Ala410=
ENST00000650888.1:c.*270G= ENSP00000498393.1:n.*270G=
ENST00000651455.1:c.1115G= ENSP00000498963.1:p.Ser372=
ENST00000674797.2:c.880G= ENSP00000502299.2:p.Ala294=
ENST00000679569.1:n.1542G=
ENST00000679842.1:c.1228G= ENSP00000506109.1:p.Ala410=
ENST00000680454.1:n.1672G=
ENST00000681102.1:c.1228G= ENSP00000505600.1:p.Ala410=
ENST00000681177.1:c.1228G= ENSP00000506327.1:p.Ala410=
ENST00000681937.1:n.1860G=
XM_005273141.3:c.1225G= XP_005273198.1:p.Ala409=
XM_005273141.5:c.1225G= XP_005273198.1:p.Ala409=
XM_006711769.2:c.1228G= XP_006711832.1:p.Ala410=
XM_006711770.1:c.292G= XP_006711833.1:p.Ala98=
XM_006711770.3:c.292G= XP_006711833.1:p.Ala98=
XM_011544193.1:c.1228G= XP_011542495.1:p.Ala410=
XM_011544194.1:c.1396G= XP_011542496.1:p.Ala466=
XM_011544194.3:c.1396G= XP_011542496.1:p.Ala466=
XM_017001329.2:c.1396G= XP_016856818.1:p.Ala466=
XM_017001330.2:c.1396G= XP_016856819.1:p.Ala466=