Canonical Allele Identifier: CA341159

Gene: AMT

Linked Data

• ClinVar Variation Id: 11979
• ClinVar RCV Id: RCV000012759 ; RCV001090581 ; RCV003230357
• dbSNP Id: rs121964985
• ExAC: 3:49455325 C / T
• gnomAD v2: 3-49455325-C-T
• gnomAD v3: 3-49417892-C-T
• gnomAD v4: 3-49417892-C-T
• MyVariant Identifiers: chr3:g.49455325C>T (hg19) ; chr3:g.49417892C>T (hg38)
• PubMed: PMID:8005589 ; PMID:10873393 ; PMID:11139253 ; PMID:11286506 ; PMID:12948742 ; PMID:20301531 ; PMID:22261077 ; PMID:23352163 ; PMID:26179960 ; PMID:27164344 ; PMID:27362913

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49417892C>T , CM000665.2:g.49417892C>T	GRCh38
NC_000003.11:g.49455325C>T , CM000665.1:g.49455325C>T	GRCh37
NC_000003.10:g.49430329C>T	NCBI36
NG_015986.1:g.9787G>A , LRG_537:g.9787G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000273588.9:c.959G>A MANE Select	ENSP00000273588.3:p.Arg320His
ENST00000395338.7:c.959G>A	ENSP00000378747.2:p.Arg320His
ENST00000399379.7:c.691G>A	ENSP00000399943.2:n.691G>A
ENST00000427987.6:c.815G>A	ENSP00000403821.2:p.Arg272His
ENST00000465925.6:n.2961G>A
ENST00000473163.2:n.3575G>A
ENST00000476127.6:n.1188G>A
ENST00000476226.6:n.1380G>A
ENST00000478594.6:n.1386G>A
ENST00000493046.6:n.2750-174G>A
ENST00000538581.6:c.815G>A	ENSP00000443200.2:p.Arg272His
ENST00000635772.1:n.1797G>A
ENST00000635798.1:n.392-174G>A
ENST00000635808.1:c.878G>A	ENSP00000489620.1:p.Arg293His
ENST00000635889.1:n.1452G>A
ENST00000635907.1:n.592-174G>A
ENST00000635936.1:n.1227G>A
ENST00000636023.1:c.*132G>A	ENSP00000489969.1:n.*132G>A
ENST00000636070.1:c.*739G>A	ENSP00000490160.1:n.*739G>A
ENST00000636148.1:n.3012G>A
ENST00000636166.1:c.1196G>A	ENSP00000490106.1:p.Arg399His
ENST00000636188.1:c.138G>A
ENST00000636199.1:c.521G>A	ENSP00000490871.1:p.Arg174His
ENST00000636204.1:n.2241G>A
ENST00000636461.1:c.4493G>A
ENST00000636522.1:c.791G>A	ENSP00000489758.1:p.Arg264His
ENST00000636587.1:n.1045G>A
ENST00000636594.1:n.481G>A
ENST00000636597.1:c.551-174G>A	ENSP00000490251.1:n.551-174G>A
ENST00000636725.1:n.1675G>A
ENST00000636803.1:n.1301G>A
ENST00000636865.1:c.803G>A	ENSP00000490601.1:p.Arg268His
ENST00000636871.1:n.1324G>A
ENST00000636978.1:n.1071G>A
ENST00000636991.1:n.1404G>A
ENST00000637059.1:c.411G>A	ENSP00000490153.1:n.411G>A
ENST00000637088.1:n.5771G>A
ENST00000637114.1:n.1059G>A
ENST00000637268.1:n.1860G>A
ENST00000637291.1:n.1693G>A
ENST00000637442.1:n.3180G>A
ENST00000637455.1:c.770G>A	ENSP00000489628.1:p.Arg257His
ENST00000637457.1:n.1820G>A
ENST00000637527.1:n.251G>A
ENST00000637682.1:c.878-174G>A	ENSP00000489856.1:n.878-174G>A
ENST00000637684.1:n.1169G>A
ENST00000637821.1:c.*1228+41G>A	ENSP00000490482.1:n.*1228+41G>A
ENST00000637914.1:n.2853G>A
ENST00000637982.1:n.1373G>A
ENST00000637994.1:n.1499G>A
ENST00000638014.1:c.3740G>A
ENST00000638063.1:c.878G>A	ENSP00000489760.1:p.Arg293His
ENST00000638079.1:c.*1471G>A	ENSP00000490120.1:n.*1471G>A
ENST00000638092.1:n.1479G>A
ENST00000638115.1:c.*2720G>A	ENSP00000490296.1:n.*2720G>A
ENST00000273588.7:c.959G>A	ENSP00000273588.3:p.Arg320His
ENST00000395338.6:c.959G>A	ENSP00000378747.2:p.Arg320His
ENST00000399379.6:c.*739G>A	ENSP00000399943.1:n.*739G>A
ENST00000427987.5:c.951G>A
ENST00000458307.6:c.827G>A	ENSP00000415619.2:p.Arg276His
ENST00000465925.5:n.2257G>A
ENST00000473163.1:n.328G>A
ENST00000476127.5:n.718G>A
ENST00000476226.5:n.1024G>A
ENST00000495436.5:n.655-174G>A
ENST00000538581.5:c.791G>A	ENSP00000443200.1:p.Arg264His
NM_000481.3:c.959G>A , LRG_537t1:c.959G>A	NP_000472.2:p.Arg320His
NM_001164710.1:c.827G>A	NP_001158182.1:p.Arg276His
NM_001164711.1:c.791G>A	NP_001158183.1:p.Arg264His
NM_001164712.1:c.959G>A	NP_001158184.1:p.Arg320His
NR_028435.1:n.1173G>A
NM_000481.4:c.959G>A MANE Select	NP_000472.2:p.Arg320His
NM_001164710.2:c.827G>A	NP_001158182.1:p.Arg276His
NM_001164711.2:c.791G>A	NP_001158183.1:p.Arg264His
NM_001164712.2:c.959G>A	NP_001158184.1:p.Arg320His
NR_028435.2:n.968G>A