Canonical Allele Identifier: CA2398194

Gene: AMT

Linked Data

• ClinVar Variation Id: 256240
• ClinVar RCV Id: RCV000249180 ; RCV000375334 ; RCV001668432
• dbSNP Id: rs11715915
• ExAC: 3:49455330 C / T
• gnomAD v2: 3-49455330-C-T
• gnomAD v3: 3-49417897-C-T
• gnomAD v4: 3-49417897-C-T
• MyVariant Identifiers: chr3:g.49455330C>T (hg19) ; chr3:g.49417897C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49417897C>T , CM000665.2:g.49417897C>T	GRCh38
NC_000003.11:g.49455330C>T , CM000665.1:g.49455330C>T	GRCh37
NC_000003.10:g.49430334C>T	NCBI36
NG_015986.1:g.9782G>A , LRG_537:g.9782G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000273588.9:c.954G>A MANE Select	ENSP00000273588.3:p.Arg318=
ENST00000395338.7:c.954G>A	ENSP00000378747.2:p.Arg318=
ENST00000399379.7:c.686G>A	ENSP00000399943.2:n.686G>A
ENST00000427987.6:c.810G>A	ENSP00000403821.2:p.Arg270=
ENST00000465925.6:n.2956G>A
ENST00000473163.2:n.3570G>A
ENST00000476127.6:n.1183G>A
ENST00000476226.6:n.1375G>A
ENST00000478594.6:n.1381G>A
ENST00000493046.6:n.2750-179G>A
ENST00000538581.6:c.810G>A	ENSP00000443200.2:p.Arg270=
ENST00000635772.1:n.1792G>A
ENST00000635798.1:n.392-179G>A
ENST00000635808.1:c.873G>A	ENSP00000489620.1:p.Arg291=
ENST00000635889.1:n.1447G>A
ENST00000635907.1:n.592-179G>A
ENST00000635936.1:n.1222G>A
ENST00000636023.1:c.*127G>A	ENSP00000489969.1:n.*127G>A
ENST00000636070.1:c.*734G>A	ENSP00000490160.1:n.*734G>A
ENST00000636148.1:n.3007G>A
ENST00000636166.1:c.1191G>A	ENSP00000490106.1:p.Arg397=
ENST00000636188.1:c.133G>A
ENST00000636199.1:c.516G>A	ENSP00000490871.1:p.Arg172=
ENST00000636204.1:n.2236G>A
ENST00000636461.1:c.4488G>A
ENST00000636522.1:c.786G>A	ENSP00000489758.1:p.Arg262=
ENST00000636587.1:n.1040G>A
ENST00000636594.1:n.476G>A
ENST00000636597.1:c.551-179G>A	ENSP00000490251.1:n.551-179G>A
ENST00000636725.1:n.1670G>A
ENST00000636803.1:n.1296G>A
ENST00000636865.1:c.798G>A	ENSP00000490601.1:p.Arg266=
ENST00000636871.1:n.1319G>A
ENST00000636978.1:n.1066G>A
ENST00000636991.1:n.1399G>A
ENST00000637059.1:c.406G>A	ENSP00000490153.1:n.406G>A
ENST00000637088.1:n.5766G>A
ENST00000637114.1:n.1054G>A
ENST00000637268.1:n.1855G>A
ENST00000637291.1:n.1688G>A
ENST00000637442.1:n.3175G>A
ENST00000637455.1:c.765G>A	ENSP00000489628.1:p.Arg255=
ENST00000637457.1:n.1815G>A
ENST00000637527.1:n.246G>A
ENST00000637682.1:c.878-179G>A	ENSP00000489856.1:n.878-179G>A
ENST00000637684.1:n.1164G>A
ENST00000637821.1:c.*1228+36G>A	ENSP00000490482.1:n.*1228+36G>A
ENST00000637914.1:n.2848G>A
ENST00000637982.1:n.1368G>A
ENST00000637994.1:n.1494G>A
ENST00000638014.1:c.3735G>A
ENST00000638063.1:c.873G>A	ENSP00000489760.1:p.Arg291=
ENST00000638079.1:c.*1466G>A	ENSP00000490120.1:n.*1466G>A
ENST00000638092.1:n.1474G>A
ENST00000638115.1:c.*2715G>A	ENSP00000490296.1:n.*2715G>A
ENST00000273588.7:c.954G>A	ENSP00000273588.3:p.Arg318=
ENST00000395338.6:c.954G>A	ENSP00000378747.2:p.Arg318=
ENST00000399379.6:c.*734G>A	ENSP00000399943.1:n.*734G>A
ENST00000427987.5:c.946G>A
ENST00000430521.1:c.786G>A	ENSP00000388068.1:p.Arg262=
ENST00000458307.6:c.822G>A	ENSP00000415619.2:p.Arg274=
ENST00000465925.5:n.2252G>A
ENST00000473163.1:n.323G>A
ENST00000476127.5:n.713G>A
ENST00000476226.5:n.1019G>A
ENST00000495436.5:n.655-179G>A
ENST00000538581.5:c.786G>A	ENSP00000443200.1:p.Arg262=
NM_000481.3:c.954G>A , LRG_537t1:c.954G>A	NP_000472.2:p.Arg318=
NM_001164710.1:c.822G>A	NP_001158182.1:p.Arg274=
NM_001164711.1:c.786G>A	NP_001158183.1:p.Arg262=
NM_001164712.1:c.954G>A	NP_001158184.1:p.Arg318=
NR_028435.1:n.1168G>A
NM_000481.4:c.954G>A MANE Select	NP_000472.2:p.Arg318=
NM_001164710.2:c.822G>A	NP_001158182.1:p.Arg274=
NM_001164711.2:c.786G>A	NP_001158183.1:p.Arg262=
NM_001164712.2:c.954G>A	NP_001158184.1:p.Arg318=
NR_028435.2:n.963G>A