Canonical Allele Identifier: CA1363479581
Community Standard Title: NM_000481.4(AMT):c.959G= (p.Arg320=)
Gene: AMT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49417892C= , CM000665.2:g.49417892C= GRCh38
NC_000003.11:g.49455325C= , CM000665.1:g.49455325C= GRCh37
NC_000003.10:g.49430329C= NCBI36
NG_015986.1:g.9787G= , LRG_537:g.9787G=

Transcript Alleles

HGVS Amino-acid Change
NM_000481.4:c.959G= MANE Select NP_000472.2:p.Arg320=
ENST00000273588.9:c.959G= MANE Select ENSP00000273588.3:p.Arg320=
NM_000481.3:c.959G= , LRG_537t1:c.959G= NP_000472.2:p.Arg320=
NM_001164710.1:c.827G= NP_001158182.1:p.Arg276=
NM_001164710.2:c.827G= NP_001158182.1:p.Arg276=
NM_001164711.1:c.791G= NP_001158183.1:p.Arg264=
NM_001164711.2:c.791G= NP_001158183.1:p.Arg264=
NM_001164712.1:c.959G= NP_001158184.1:p.Arg320=
NM_001164712.2:c.959G= NP_001158184.1:p.Arg320=
NR_028435.1:n.1173G=
NR_028435.2:n.968G=
ENST00000273588.7:c.959G= ENSP00000273588.3:p.Arg320=
ENST00000395338.6:c.959G= ENSP00000378747.2:p.Arg320=
ENST00000395338.7:c.959G= ENSP00000378747.2:p.Arg320=
ENST00000399379.6:c.*739G= ENSP00000399943.1:n.*739G=
ENST00000399379.7:c.691G= ENSP00000399943.2:n.691G=
ENST00000427987.5:c.951G=
ENST00000427987.6:c.815G= ENSP00000403821.2:p.Arg272=
ENST00000458307.6:c.827G= ENSP00000415619.2:p.Arg276=
ENST00000465925.5:n.2257G=
ENST00000465925.6:n.2961G=
ENST00000473163.1:n.328G=
ENST00000473163.2:n.3575G=
ENST00000476127.5:n.718G=
ENST00000476127.6:n.1188G=
ENST00000476226.5:n.1024G=
ENST00000476226.6:n.1380G=
ENST00000478594.6:n.1386G=
ENST00000493046.6:n.2750-174G=
ENST00000495436.5:n.655-174G=
ENST00000538581.5:c.791G= ENSP00000443200.1:p.Arg264=
ENST00000538581.6:c.815G= ENSP00000443200.2:p.Arg272=
ENST00000635772.1:n.1797G=
ENST00000635798.1:n.392-174G=
ENST00000635808.1:c.878G= ENSP00000489620.1:p.Arg293=
ENST00000635889.1:n.1452G=
ENST00000635907.1:n.592-174G=
ENST00000635936.1:n.1227G=
ENST00000636023.1:c.*132G= ENSP00000489969.1:n.*132G=
ENST00000636070.1:c.*739G= ENSP00000490160.1:n.*739G=
ENST00000636148.1:n.3012G=
ENST00000636166.1:c.1196G= ENSP00000490106.1:p.Arg399=
ENST00000636188.1:c.138G=
ENST00000636199.1:c.521G= ENSP00000490871.1:p.Arg174=
ENST00000636204.1:n.2241G=
ENST00000636461.1:c.4493G=
ENST00000636522.1:c.791G= ENSP00000489758.1:p.Arg264=
ENST00000636587.1:n.1045G=
ENST00000636594.1:n.481G=
ENST00000636597.1:c.551-174G= ENSP00000490251.1:n.551-174G=
ENST00000636725.1:n.1675G=
ENST00000636803.1:n.1301G=
ENST00000636865.1:c.803G= ENSP00000490601.1:p.Arg268=
ENST00000636871.1:n.1324G=
ENST00000636978.1:n.1071G=
ENST00000636991.1:n.1404G=
ENST00000637059.1:c.411G= ENSP00000490153.1:n.411G=
ENST00000637088.1:n.5771G=
ENST00000637114.1:n.1059G=
ENST00000637268.1:n.1860G=
ENST00000637291.1:n.1693G=
ENST00000637442.1:n.3180G=
ENST00000637455.1:c.770G= ENSP00000489628.1:p.Arg257=
ENST00000637457.1:n.1820G=
ENST00000637527.1:n.251G=
ENST00000637682.1:c.878-174G= ENSP00000489856.1:n.878-174G=
ENST00000637684.1:n.1169G=
ENST00000637821.1:c.*1228+41G= ENSP00000490482.1:n.*1228+41G=
ENST00000637914.1:n.2853G=
ENST00000637982.1:n.1373G=
ENST00000637994.1:n.1499G=
ENST00000638014.1:c.3740G=
ENST00000638063.1:c.878G= ENSP00000489760.1:p.Arg293=
ENST00000638079.1:c.*1471G= ENSP00000490120.1:n.*1471G=
ENST00000638092.1:n.1479G=
ENST00000638115.1:c.*2720G= ENSP00000490296.1:n.*2720G=