Canonical Allele Identifier: CA352789670
Gene: AMT HGNC NCBI

Linked Data

dbSNP Id: rs2049049409

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49418979C>T , CM000665.2:g.49418979C>T GRCh38
NC_000003.11:g.49456412C>T , CM000665.1:g.49456412C>T GRCh37
NC_000003.10:g.49431416C>T NCBI36
NG_015986.1:g.8700G>A , LRG_537:g.8700G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000273588.9:c.869G>A MANE Select ENSP00000273588.3:p.Trp290Ter
ENST00000395338.7:c.869G>A ENSP00000378747.2:p.Trp290Ter
ENST00000399379.7:c.601G>A ENSP00000399943.2:n.601G>A
ENST00000427987.6:c.725G>A ENSP00000403821.2:p.Trp242Ter
ENST00000465925.6:n.2871G>A
ENST00000473163.2:n.3485G>A
ENST00000476127.6:n.1098G>A
ENST00000476226.6:n.1290G>A
ENST00000476828.2:n.1676G>A
ENST00000478594.6:n.1296G>A
ENST00000480957.6:n.2870G>A
ENST00000487589.6:n.782G>A
ENST00000491800.3:n.3494G>A
ENST00000493046.6:n.2749+731G>A
ENST00000538581.6:c.725G>A ENSP00000443200.2:p.Trp242Ter
ENST00000635772.1:n.1707G>A
ENST00000635798.1:n.391+281G>A
ENST00000635808.1:c.788G>A ENSP00000489620.1:p.Trp263Ter
ENST00000635889.1:n.1300G>A
ENST00000635907.1:n.591+281G>A
ENST00000635936.1:n.1137G>A
ENST00000636023.1:c.*42G>A ENSP00000489969.1:n.*42G>A
ENST00000636070.1:c.*649G>A ENSP00000490160.1:n.*649G>A
ENST00000636148.1:n.2922G>A
ENST00000636166.1:c.1106G>A ENSP00000490106.1:p.Trp369Ter
ENST00000636188.1:c.48G>A
ENST00000636199.1:c.431G>A ENSP00000490871.1:p.Trp144Ter
ENST00000636204.1:n.2151G>A
ENST00000636461.1:c.4403G>A
ENST00000636522.1:c.701G>A ENSP00000489758.1:p.Trp234Ter
ENST00000636587.1:n.955G>A
ENST00000636597.1:c.550+731G>A ENSP00000490251.1:n.550+731G>A
ENST00000636725.1:n.1585G>A
ENST00000636803.1:n.1211G>A
ENST00000636865.1:c.713G>A ENSP00000490601.1:p.Trp238Ter
ENST00000636871.1:n.1234G>A
ENST00000636978.1:n.981G>A
ENST00000636991.1:n.1314G>A
ENST00000637059.1:c.321G>A ENSP00000490153.1:n.321G>A
ENST00000637088.1:n.5681G>A
ENST00000637114.1:n.969G>A
ENST00000637268.1:n.1708G>A
ENST00000637291.1:n.1603G>A
ENST00000637442.1:n.3090G>A
ENST00000637455.1:c.680G>A ENSP00000489628.1:p.Trp227Ter
ENST00000637457.1:n.1730G>A
ENST00000637682.1:c.869G>A ENSP00000489856.1:p.Trp290Ter
ENST00000637684.1:n.1079G>A
ENST00000637821.1:c.*1179G>A ENSP00000490482.1:n.*1179G>A
ENST00000637914.1:n.2763G>A
ENST00000637982.1:n.1283G>A
ENST00000637994.1:n.1409G>A
ENST00000638014.1:c.3650G>A
ENST00000638063.1:c.788G>A ENSP00000489760.1:p.Trp263Ter
ENST00000638079.1:c.*1381G>A ENSP00000490120.1:n.*1381G>A
ENST00000638092.1:n.1389G>A
ENST00000638115.1:c.*2630G>A ENSP00000490296.1:n.*2630G>A
ENST00000273588.7:c.869G>A ENSP00000273588.3:p.Trp290Ter
ENST00000395338.6:c.869G>A ENSP00000378747.2:p.Trp290Ter
ENST00000399379.6:c.*649G>A ENSP00000399943.1:n.*649G>A
ENST00000427987.5:c.861G>A
ENST00000430521.1:c.701G>A ENSP00000388068.1:p.Trp234Ter
ENST00000458307.6:c.737G>A ENSP00000415619.2:p.Trp246Ter
ENST00000465925.5:n.2167G>A
ENST00000473163.1:n.238G>A
ENST00000476127.5:n.628G>A
ENST00000476226.5:n.934G>A
ENST00000491800.2:n.427G>A
ENST00000495436.5:n.654+281G>A
ENST00000538581.5:c.701G>A ENSP00000443200.1:p.Trp234Ter
NM_000481.3:c.869G>A , LRG_537t1:c.869G>A NP_000472.2:p.Trp290Ter
NM_001164710.1:c.737G>A NP_001158182.1:p.Trp246Ter
NM_001164711.1:c.701G>A NP_001158183.1:p.Trp234Ter
NM_001164712.1:c.869G>A NP_001158184.1:p.Trp290Ter
NR_028435.1:n.1083G>A
NM_000481.4:c.869G>A MANE Select NP_000472.2:p.Trp290Ter
NM_001164710.2:c.737G>A NP_001158182.1:p.Trp246Ter
NM_001164711.2:c.701G>A NP_001158183.1:p.Trp234Ter
NM_001164712.2:c.869G>A NP_001158184.1:p.Trp290Ter
NR_028435.2:n.878G>A