Canonical Allele Identifier: CA352789636
Gene: AMT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49417971T>C , CM000665.2:g.49417971T>C GRCh38
NC_000003.11:g.49455404T>C , CM000665.1:g.49455404T>C GRCh37
NC_000003.10:g.49430408T>C NCBI36
NG_015986.1:g.9708A>G , LRG_537:g.9708A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000273588.9:c.880A>G MANE Select ENSP00000273588.3:p.Lys294Glu
ENST00000395338.7:c.880A>G ENSP00000378747.2:p.Lys294Glu
ENST00000399379.7:c.612A>G ENSP00000399943.2:n.612A>G
ENST00000427987.6:c.736A>G ENSP00000403821.2:p.Lys246Glu
ENST00000465925.6:n.2882A>G
ENST00000473163.2:n.3496A>G
ENST00000476127.6:n.1109A>G
ENST00000476226.6:n.1301A>G
ENST00000478594.6:n.1307A>G
ENST00000493046.6:n.2750-253A>G
ENST00000538581.6:c.736A>G ENSP00000443200.2:p.Lys246Glu
ENST00000635772.1:n.1718A>G
ENST00000635798.1:n.392-253A>G
ENST00000635808.1:c.799A>G ENSP00000489620.1:p.Lys267Glu
ENST00000635889.1:n.1373A>G
ENST00000635907.1:n.592-253A>G
ENST00000635936.1:n.1148A>G
ENST00000636023.1:c.*53A>G ENSP00000489969.1:n.*53A>G
ENST00000636070.1:c.*660A>G ENSP00000490160.1:n.*660A>G
ENST00000636148.1:n.2933A>G
ENST00000636166.1:c.1117A>G ENSP00000490106.1:p.Lys373Glu
ENST00000636188.1:c.59A>G
ENST00000636199.1:c.442A>G ENSP00000490871.1:p.Lys148Glu
ENST00000636204.1:n.2162A>G
ENST00000636461.1:c.4414A>G
ENST00000636522.1:c.712A>G ENSP00000489758.1:p.Lys238Glu
ENST00000636587.1:n.966A>G
ENST00000636594.1:n.402A>G
ENST00000636597.1:c.551-253A>G ENSP00000490251.1:n.551-253A>G
ENST00000636725.1:n.1596A>G
ENST00000636803.1:n.1222A>G
ENST00000636865.1:c.724A>G ENSP00000490601.1:p.Lys242Glu
ENST00000636871.1:n.1245A>G
ENST00000636978.1:n.992A>G
ENST00000636991.1:n.1325A>G
ENST00000637059.1:c.332A>G ENSP00000490153.1:n.332A>G
ENST00000637088.1:n.5692A>G
ENST00000637114.1:n.980A>G
ENST00000637268.1:n.1781A>G
ENST00000637291.1:n.1614A>G
ENST00000637442.1:n.3101A>G
ENST00000637455.1:c.691A>G ENSP00000489628.1:p.Lys231Glu
ENST00000637457.1:n.1741A>G
ENST00000637527.1:n.172A>G
ENST00000637682.1:c.878-253A>G ENSP00000489856.1:n.878-253A>G
ENST00000637684.1:n.1090A>G
ENST00000637821.1:c.*1190A>G ENSP00000490482.1:n.*1190A>G
ENST00000637914.1:n.2774A>G
ENST00000637982.1:n.1294A>G
ENST00000637994.1:n.1420A>G
ENST00000638014.1:c.3661A>G
ENST00000638063.1:c.799A>G ENSP00000489760.1:p.Lys267Glu
ENST00000638079.1:c.*1392A>G ENSP00000490120.1:n.*1392A>G
ENST00000638092.1:n.1400A>G
ENST00000638115.1:c.*2641A>G ENSP00000490296.1:n.*2641A>G
ENST00000273588.7:c.880A>G ENSP00000273588.3:p.Lys294Glu
ENST00000395338.6:c.880A>G ENSP00000378747.2:p.Lys294Glu
ENST00000399379.6:c.*660A>G ENSP00000399943.1:n.*660A>G
ENST00000427987.5:c.872A>G
ENST00000430521.1:c.712A>G ENSP00000388068.1:p.Lys238Glu
ENST00000458307.6:c.748A>G ENSP00000415619.2:p.Lys250Glu
ENST00000465925.5:n.2178A>G
ENST00000473163.1:n.249A>G
ENST00000476127.5:n.639A>G
ENST00000476226.5:n.945A>G
ENST00000495436.5:n.655-253A>G
ENST00000538581.5:c.712A>G ENSP00000443200.1:p.Lys238Glu
NM_000481.3:c.880A>G , LRG_537t1:c.880A>G NP_000472.2:p.Lys294Glu
NM_001164710.1:c.748A>G NP_001158182.1:p.Lys250Glu
NM_001164711.1:c.712A>G NP_001158183.1:p.Lys238Glu
NM_001164712.1:c.880A>G NP_001158184.1:p.Lys294Glu
NR_028435.1:n.1094A>G
NM_000481.4:c.880A>G MANE Select NP_000472.2:p.Lys294Glu
NM_001164710.2:c.748A>G NP_001158182.1:p.Lys250Glu
NM_001164711.2:c.712A>G NP_001158183.1:p.Lys238Glu
NM_001164712.2:c.880A>G NP_001158184.1:p.Lys294Glu
NR_028435.2:n.889A>G