Canonical Allele Identifier: CA433648158
Gene: AMT HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.49459693G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49422260G>T , CM000665.2:g.49422260G>T GRCh38
NC_000003.11:g.49459693G>T , CM000665.1:g.49459693G>T GRCh37
NC_000003.10:g.49434697G>T NCBI36
NG_015986.1:g.5419C>A , LRG_537:g.5419C>A
NG_033046.1:g.12065C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000273588.9:c.102C>A MANE Select ENSP00000273588.3:p.Arg34=
ENST00000395338.7:c.102C>A ENSP00000378747.2:p.Arg34=
ENST00000399379.7:c.60+101C>A ENSP00000399943.2:n.60+101C>A
ENST00000427987.6:c.-40-3C>A ENSP00000403821.2:n.-40-3C>A
ENST00000430521.2:c.90+101C>A ENSP00000388068.2:n.90+101C>A
ENST00000462048.2:c.-102+179C>A ENSP00000490465.1:n.-102+179C>A
ENST00000465925.6:n.121C>A
ENST00000473163.2:n.204C>A
ENST00000476226.6:n.104-3C>A
ENST00000478594.6:n.110-3C>A
ENST00000480957.6:n.120C>A
ENST00000485108.6:n.232C>A
ENST00000487589.6:n.18-3C>A
ENST00000491800.3:n.213C>A
ENST00000493046.6:n.199C>A
ENST00000538581.6:c.-40-3C>A ENSP00000443200.2:n.-40-3C>A
ENST00000635772.1:n.106C>A
ENST00000635808.1:c.102C>A ENSP00000489620.1:p.Arg34=
ENST00000635889.1:n.114-3C>A
ENST00000635936.1:n.94C>A
ENST00000636023.1:c.102C>A ENSP00000489969.1:p.Arg34=
ENST00000636070.1:c.90+101C>A ENSP00000490160.1:n.90+101C>A
ENST00000636148.1:n.172C>A
ENST00000636166.1:c.496-688C>A ENSP00000490106.1:n.496-688C>A
ENST00000636199.1:c.102C>A ENSP00000490871.1:p.Arg34=
ENST00000636204.1:n.1384C>A
ENST00000636461.1:c.3214C>A
ENST00000636522.1:c.90+101C>A ENSP00000489758.1:n.90+101C>A
ENST00000636587.1:n.334C>A
ENST00000636597.1:c.102C>A ENSP00000490251.1:p.Arg34=
ENST00000636725.1:n.95-3C>A
ENST00000636803.1:n.95-3C>A
ENST00000636865.1:c.-40-3C>A ENSP00000490601.1:n.-40-3C>A
ENST00000636871.1:n.45C>A
ENST00000636978.1:n.106C>A
ENST00000636991.1:n.125C>A
ENST00000637088.1:n.3657C>A
ENST00000637114.1:n.94C>A
ENST00000637268.1:n.110-3C>A
ENST00000637291.1:n.110C>A
ENST00000637442.1:n.1597C>A
ENST00000637457.1:n.132-3C>A
ENST00000637682.1:c.102C>A ENSP00000489856.1:p.Arg34=
ENST00000637684.1:n.204C>A
ENST00000637821.1:c.90+101C>A ENSP00000490482.1:n.90+101C>A
ENST00000637914.1:n.121C>A
ENST00000637982.1:n.94C>A
ENST00000637994.1:n.112C>A
ENST00000638014.1:c.2883C>A
ENST00000638063.1:c.102C>A ENSP00000489760.1:p.Arg34=
ENST00000638079.1:c.*618C>A ENSP00000490120.1:n.*618C>A
ENST00000638092.1:n.95-3C>A
ENST00000638115.1:c.*1863C>A ENSP00000490296.1:n.*1863C>A
ENST00000273588.7:c.102C>A ENSP00000273588.3:p.Arg34=
ENST00000395338.6:c.102C>A ENSP00000378747.2:p.Arg34=
ENST00000399379.6:c.90+101C>A ENSP00000399943.1:n.90+101C>A
ENST00000427987.5:c.94C>A
ENST00000430521.1:c.90+101C>A ENSP00000388068.1:n.90+101C>A
ENST00000458307.6:c.102C>A ENSP00000415619.2:p.Arg34=
ENST00000462048.1:n.247+179C>A
ENST00000476226.5:n.170-3C>A
ENST00000478594.5:n.99-3C>A
ENST00000480957.5:n.110C>A
ENST00000485108.5:n.99-3C>A
ENST00000487589.5:n.204C>A
ENST00000493046.5:n.91+101C>A
ENST00000495436.5:n.192C>A
ENST00000498571.1:n.100C>A
ENST00000538581.5:c.90+101C>A ENSP00000443200.1:n.90+101C>A
NM_000481.3:c.102C>A , LRG_537t1:c.102C>A NP_000472.2:p.Arg34=
NM_001164710.1:c.102C>A NP_001158182.1:p.Arg34=
NM_001164711.1:c.90+101C>A NP_001158183.1:n.90+101C>A
NM_001164712.1:c.102C>A NP_001158184.1:p.Arg34=
NR_028435.1:n.319-3C>A
NM_000481.4:c.102C>A MANE Select NP_000472.2:p.Arg34=
NM_001164710.2:c.102C>A NP_001158182.1:p.Arg34=
NM_001164711.2:c.90+101C>A NP_001158183.1:n.90+101C>A
NM_001164712.2:c.102C>A NP_001158184.1:p.Arg34=
NR_028435.2:n.114-3C>A