Canonical Allele Identifier: CA2398296

Gene: AMT

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49419325C>T , CM000665.2:g.49419325C>T	GRCh38
NC_000003.11:g.49456758C>T , CM000665.1:g.49456758C>T	GRCh37
NC_000003.10:g.49431762C>T	NCBI36
NG_015986.1:g.8354G>A , LRG_537:g.8354G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273588.9:c.631G>A MANE Select	ENSP00000273588.3:p.Glu211Lys
ENST00000395338.7:c.631G>A	ENSP00000378747.2:p.Glu211Lys
ENST00000399379.7:c.363G>A	ENSP00000399943.2:n.363G>A
ENST00000427987.6:c.487G>A	ENSP00000403821.2:p.Glu163Lys
ENST00000430521.2:c.*433G>A	ENSP00000388068.2:n.*433G>A
ENST00000465925.6:n.2525G>A
ENST00000473163.2:n.3139G>A
ENST00000476127.6:n.860G>A
ENST00000476226.6:n.1052G>A
ENST00000476828.2:n.1330G>A
ENST00000478594.6:n.1058G>A
ENST00000480957.6:n.2524G>A
ENST00000487589.6:n.544G>A
ENST00000491800.3:n.3148G>A
ENST00000493046.6:n.2749+385G>A
ENST00000538581.6:c.487G>A	ENSP00000443200.2:p.Glu163Lys
ENST00000635772.1:n.1361G>A
ENST00000635798.1:n.326G>A
ENST00000635808.1:c.550G>A	ENSP00000489620.1:p.Glu184Lys
ENST00000635889.1:n.1062G>A
ENST00000635907.1:n.526G>A
ENST00000635936.1:n.965-174G>A
ENST00000636023.1:c.551-174G>A	ENSP00000489969.1:n.551-174G>A
ENST00000636070.1:c.*411G>A	ENSP00000490160.1:n.*411G>A
ENST00000636148.1:n.2576G>A
ENST00000636166.1:c.868G>A	ENSP00000490106.1:p.Glu290Lys
ENST00000636199.1:c.259-174G>A	ENSP00000490871.1:n.259-174G>A
ENST00000636204.1:n.1913G>A
ENST00000636461.1:c.4165G>A
ENST00000636522.1:c.463G>A	ENSP00000489758.1:p.Glu155Lys
ENST00000636587.1:n.783-174G>A
ENST00000636597.1:c.550+385G>A	ENSP00000490251.1:n.550+385G>A
ENST00000636725.1:n.1347G>A
ENST00000636803.1:n.973G>A
ENST00000636865.1:c.475G>A	ENSP00000490601.1:p.Glu159Lys
ENST00000636871.1:n.996G>A
ENST00000636978.1:n.635G>A
ENST00000636991.1:n.1076G>A
ENST00000637059.1:c.149-174G>A	ENSP00000490153.1:n.149-174G>A
ENST00000637088.1:n.5443G>A
ENST00000637114.1:n.623G>A
ENST00000637268.1:n.1362G>A
ENST00000637291.1:n.1365G>A
ENST00000637442.1:n.2852G>A
ENST00000637455.1:c.442G>A	ENSP00000489628.1:p.Glu148Lys
ENST00000637457.1:n.1384G>A
ENST00000637682.1:c.631G>A	ENSP00000489856.1:p.Glu211Lys
ENST00000637684.1:n.733G>A
ENST00000637821.1:c.*833G>A	ENSP00000490482.1:n.*833G>A
ENST00000637914.1:n.2525G>A
ENST00000637982.1:n.1045G>A
ENST00000637994.1:n.1063G>A
ENST00000638014.1:c.3412G>A
ENST00000638063.1:c.550G>A	ENSP00000489760.1:p.Glu184Lys
ENST00000638079.1:c.*1143G>A	ENSP00000490120.1:n.*1143G>A
ENST00000638092.1:n.1043G>A
ENST00000638115.1:c.*2392G>A	ENSP00000490296.1:n.*2392G>A
ENST00000273588.7:c.631G>A	ENSP00000273588.3:p.Glu211Lys
ENST00000395338.6:c.631G>A	ENSP00000378747.2:p.Glu211Lys
ENST00000399379.6:c.*411G>A	ENSP00000399943.1:n.*411G>A
ENST00000427987.5:c.623G>A
ENST00000430521.1:c.463G>A	ENSP00000388068.1:p.Glu155Lys
ENST00000458307.6:c.499G>A	ENSP00000415619.2:p.Glu167Lys
ENST00000461210.1:n.813G>A
ENST00000465925.5:n.1821G>A
ENST00000476127.5:n.390G>A
ENST00000476226.5:n.696G>A
ENST00000478594.5:n.1047G>A
ENST00000487589.5:n.733G>A
ENST00000491800.2:n.81G>A
ENST00000495436.5:n.589G>A
ENST00000538581.5:c.463G>A	ENSP00000443200.1:p.Glu155Lys
NM_000481.3:c.631G>A , LRG_537t1:c.631G>A	NP_000472.2:p.Glu211Lys
NM_001164710.1:c.499G>A	NP_001158182.1:p.Glu167Lys
NM_001164711.1:c.463G>A	NP_001158183.1:p.Glu155Lys
NM_001164712.1:c.631G>A	NP_001158184.1:p.Glu211Lys
NR_028435.1:n.845G>A
NM_000481.4:c.631G>A MANE Select	NP_000472.2:p.Glu211Lys
NM_001164710.2:c.499G>A	NP_001158182.1:p.Glu167Lys
NM_001164711.2:c.463G>A	NP_001158183.1:p.Glu155Lys
NM_001164712.2:c.631G>A	NP_001158184.1:p.Glu211Lys
NR_028435.2:n.640G>A