Canonical Allele Identifier: CA1363480391
Community Standard Title: NM_000481.4(AMT):c.574C= (p.Gln192=)
Gene: AMT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49419382G= , CM000665.2:g.49419382G= GRCh38
NC_000003.11:g.49456815G= , CM000665.1:g.49456815G= GRCh37
NC_000003.10:g.49431819G= NCBI36
NG_015986.1:g.8297C= , LRG_537:g.8297C=

Transcript Alleles

HGVS Amino-acid Change
NM_000481.4:c.574C= MANE Select NP_000472.2:p.Gln192=
ENST00000273588.9:c.574C= MANE Select ENSP00000273588.3:p.Gln192=
NM_000481.3:c.574C= , LRG_537t1:c.574C= NP_000472.2:p.Gln192=
NM_001164710.1:c.442C= NP_001158182.1:p.Gln148=
NM_001164710.2:c.442C= NP_001158182.1:p.Gln148=
NM_001164711.1:c.406C= NP_001158183.1:p.Gln136=
NM_001164711.2:c.406C= NP_001158183.1:p.Gln136=
NM_001164712.1:c.574C= NP_001158184.1:p.Gln192=
NM_001164712.2:c.574C= NP_001158184.1:p.Gln192=
NR_028435.1:n.788C=
NR_028435.2:n.583C=
ENST00000273588.7:c.574C= ENSP00000273588.3:p.Gln192=
ENST00000395338.6:c.574C= ENSP00000378747.2:p.Gln192=
ENST00000395338.7:c.574C= ENSP00000378747.2:p.Gln192=
ENST00000399379.6:c.*354C= ENSP00000399943.1:n.*354C=
ENST00000399379.7:c.353-47C= ENSP00000399943.2:n.353-47C=
ENST00000427987.5:c.566C=
ENST00000427987.6:c.430C= ENSP00000403821.2:p.Gln144=
ENST00000430521.1:c.406C= ENSP00000388068.1:p.Gln136=
ENST00000430521.2:c.*376C= ENSP00000388068.2:n.*376C=
ENST00000458307.6:c.442C= ENSP00000415619.2:p.Gln148=
ENST00000461210.1:n.756C=
ENST00000465925.5:n.1764C=
ENST00000465925.6:n.2468C=
ENST00000473163.2:n.3082C=
ENST00000476127.5:n.333C=
ENST00000476127.6:n.850-47C=
ENST00000476226.5:n.639C=
ENST00000476226.6:n.995C=
ENST00000476828.2:n.1273C=
ENST00000478594.5:n.990C=
ENST00000478594.6:n.1001C=
ENST00000480957.6:n.2467C=
ENST00000487589.5:n.676C=
ENST00000487589.6:n.487C=
ENST00000491800.2:n.24C=
ENST00000491800.3:n.3091C=
ENST00000493046.6:n.2749+328C=
ENST00000495436.5:n.532C=
ENST00000538581.5:c.406C= ENSP00000443200.1:p.Gln136=
ENST00000538581.6:c.430C= ENSP00000443200.2:p.Gln144=
ENST00000635772.1:n.1304C=
ENST00000635798.1:n.269C=
ENST00000635808.1:c.493C= ENSP00000489620.1:p.Gln165=
ENST00000635889.1:n.1005C=
ENST00000635907.1:n.469C=
ENST00000635936.1:n.965-231C=
ENST00000636023.1:c.551-231C= ENSP00000489969.1:n.551-231C=
ENST00000636070.1:c.*354C= ENSP00000490160.1:n.*354C=
ENST00000636148.1:n.2519C=
ENST00000636166.1:c.811C= ENSP00000490106.1:p.Gln271=
ENST00000636199.1:c.259-231C= ENSP00000490871.1:n.259-231C=
ENST00000636204.1:n.1856C=
ENST00000636461.1:c.4108C=
ENST00000636522.1:c.406C= ENSP00000489758.1:p.Gln136=
ENST00000636587.1:n.783-231C=
ENST00000636597.1:c.550+328C= ENSP00000490251.1:n.550+328C=
ENST00000636725.1:n.1290C=
ENST00000636803.1:n.963-47C=
ENST00000636865.1:c.418C= ENSP00000490601.1:p.Gln140=
ENST00000636871.1:n.939C=
ENST00000636978.1:n.578C=
ENST00000636991.1:n.1019C=
ENST00000637059.1:c.149-231C= ENSP00000490153.1:n.149-231C=
ENST00000637088.1:n.5386C=
ENST00000637114.1:n.566C=
ENST00000637268.1:n.1305C=
ENST00000637291.1:n.1308C=
ENST00000637442.1:n.2795C=
ENST00000637455.1:c.385C= ENSP00000489628.1:p.Gln129=
ENST00000637457.1:n.1327C=
ENST00000637682.1:c.574C= ENSP00000489856.1:p.Gln192=
ENST00000637684.1:n.676C=
ENST00000637821.1:c.*776C= ENSP00000490482.1:n.*776C=
ENST00000637914.1:n.2468C=
ENST00000637982.1:n.988C=
ENST00000637994.1:n.1006C=
ENST00000638014.1:c.3355C=
ENST00000638063.1:c.493C= ENSP00000489760.1:p.Gln165=
ENST00000638079.1:c.*1086C= ENSP00000490120.1:n.*1086C=
ENST00000638092.1:n.986C=
ENST00000638115.1:c.*2335C= ENSP00000490296.1:n.*2335C=