Canonical Allele Identifier: CA1363480801
Community Standard Title: NM_000481.4(AMT):c.434A= (p.Asn145=)
Gene: AMT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49420248T= , CM000665.2:g.49420248T= GRCh38
NC_000003.11:g.49457681T= , CM000665.1:g.49457681T= GRCh37
NC_000003.10:g.49432685T= NCBI36
NG_015986.1:g.7431A= , LRG_537:g.7431A=

Transcript Alleles

HGVS Amino-acid Change
NM_000481.4:c.434A= MANE Select NP_000472.2:p.Asn145=
ENST00000273588.9:c.434A= MANE Select ENSP00000273588.3:p.Asn145=
NM_000481.3:c.434A= , LRG_537t1:c.434A= NP_000472.2:p.Asn145=
NM_001164710.1:c.340-460A= NP_001158182.1:n.340-460A=
NM_001164710.2:c.340-460A= NP_001158182.1:n.340-460A=
NM_001164711.1:c.266A= NP_001158183.1:p.Asn89=
NM_001164711.2:c.266A= NP_001158183.1:p.Asn89=
NM_001164712.1:c.434A= NP_001158184.1:p.Asn145=
NM_001164712.2:c.434A= NP_001158184.1:p.Asn145=
NR_028435.1:n.648A=
NR_028435.2:n.443A=
ENST00000273588.7:c.434A= ENSP00000273588.3:p.Asn145=
ENST00000395338.6:c.434A= ENSP00000378747.2:p.Asn145=
ENST00000395338.7:c.434A= ENSP00000378747.2:p.Asn145=
ENST00000399379.6:c.*214A= ENSP00000399943.1:n.*214A=
ENST00000399379.7:c.236A= ENSP00000399943.2:p.Asn79=
ENST00000427987.5:c.426A=
ENST00000427987.6:c.290A= ENSP00000403821.2:p.Asn97=
ENST00000430521.1:c.266A= ENSP00000388068.1:p.Asn89=
ENST00000430521.2:c.*236A= ENSP00000388068.2:n.*236A=
ENST00000458307.6:c.340-460A= ENSP00000415619.2:n.340-460A=
ENST00000461210.1:n.616A=
ENST00000462048.1:n.491A=
ENST00000462048.2:c.143A= ENSP00000490465.1:p.Asn48=
ENST00000465925.5:n.898A=
ENST00000465925.6:n.1602A=
ENST00000473163.2:n.2216A=
ENST00000476127.6:n.311A=
ENST00000476226.5:n.499A=
ENST00000476226.6:n.433A=
ENST00000476828.1:n.407A=
ENST00000476828.2:n.407A=
ENST00000478594.5:n.428A=
ENST00000478594.6:n.439A=
ENST00000480957.5:n.442A=
ENST00000480957.6:n.1601A=
ENST00000485108.5:n.428A=
ENST00000485108.6:n.564A=
ENST00000487589.5:n.536A=
ENST00000487589.6:n.347A=
ENST00000491800.3:n.2225A=
ENST00000493046.5:n.335A=
ENST00000493046.6:n.2211A=
ENST00000495436.5:n.430-460A=
ENST00000538581.5:c.266A= ENSP00000443200.1:p.Asn89=
ENST00000538581.6:c.290A= ENSP00000443200.2:p.Asn97=
ENST00000635772.1:n.438A=
ENST00000635808.1:c.353A= ENSP00000489620.1:p.Asn118=
ENST00000635889.1:n.443A=
ENST00000635936.1:n.426A=
ENST00000636023.1:c.434A= ENSP00000489969.1:p.Asn145=
ENST00000636070.1:c.*214A= ENSP00000490160.1:n.*214A=
ENST00000636148.1:n.1653A=
ENST00000636166.1:c.671A= ENSP00000490106.1:p.Asn224=
ENST00000636199.1:c.259-1097A= ENSP00000490871.1:n.259-1097A=
ENST00000636204.1:n.1716A=
ENST00000636461.1:c.3546A=
ENST00000636522.1:c.266A= ENSP00000489758.1:p.Asn89=
ENST00000636587.1:n.666A=
ENST00000636597.1:c.434A= ENSP00000490251.1:p.Asn145=
ENST00000636725.1:n.424A=
ENST00000636803.1:n.424A=
ENST00000636865.1:c.290A= ENSP00000490601.1:p.Asn97=
ENST00000636871.1:n.377A=
ENST00000636978.1:n.438A=
ENST00000636991.1:n.457A=
ENST00000637059.1:c.70-460A= ENSP00000490153.1:n.70-460A=
ENST00000637088.1:n.4520A=
ENST00000637114.1:n.426A=
ENST00000637268.1:n.439A=
ENST00000637291.1:n.442A=
ENST00000637442.1:n.1929A=
ENST00000637455.1:c.245A= ENSP00000489628.1:p.Asn82=
ENST00000637457.1:n.461A=
ENST00000637682.1:c.434A= ENSP00000489856.1:p.Asn145=
ENST00000637684.1:n.536A=
ENST00000637821.1:c.*214A= ENSP00000490482.1:n.*214A=
ENST00000637914.1:n.1602A=
ENST00000637982.1:n.426A=
ENST00000637994.1:n.444A=
ENST00000638014.1:c.3215A=
ENST00000638063.1:c.353A= ENSP00000489760.1:p.Asn118=
ENST00000638079.1:c.*950A= ENSP00000490120.1:n.*950A=
ENST00000638092.1:n.424A=
ENST00000638115.1:c.*2195A= ENSP00000490296.1:n.*2195A=