Canonical Allele Identifier: CA2580070110

Gene: AMT

Linked Data

• ClinVar Variation Id: 2439033
• ClinVar RCV Id: RCV003492836

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49417813C>T , CM000665.2:g.49417813C>T	GRCh38
NC_000003.11:g.49455246C>T , CM000665.1:g.49455246C>T	GRCh37
NC_000003.10:g.49430250C>T	NCBI36
NG_015986.1:g.9866G>A , LRG_537:g.9866G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000273588.9:c.1033+5G>A MANE Select	ENSP00000273588.3:n.1033+5G>A
ENST00000395338.7:c.1033+5G>A	ENSP00000378747.2:n.1033+5G>A
ENST00000399379.7:c.765+5G>A	ENSP00000399943.2:n.765+5G>A
ENST00000427987.6:c.889+5G>A	ENSP00000403821.2:n.889+5G>A
ENST00000465925.6:n.3035+5G>A
ENST00000473163.2:n.3649+5G>A
ENST00000476127.6:n.1262+5G>A
ENST00000476226.6:n.1454+5G>A
ENST00000478594.6:n.1460+5G>A
ENST00000493046.6:n.2750-95G>A
ENST00000538581.6:c.889+5G>A	ENSP00000443200.2:n.889+5G>A
ENST00000635772.1:n.1871+5G>A
ENST00000635798.1:n.392-95G>A
ENST00000635808.1:c.952+5G>A	ENSP00000489620.1:n.952+5G>A
ENST00000635889.1:n.1526+5G>A
ENST00000635907.1:n.592-95G>A
ENST00000635936.1:n.1301+5G>A
ENST00000636023.1:c.*206+5G>A	ENSP00000489969.1:n.*206+5G>A
ENST00000636070.1:c.*813+5G>A	ENSP00000490160.1:n.*813+5G>A
ENST00000636148.1:n.3086+5G>A
ENST00000636166.1:c.1270+5G>A	ENSP00000490106.1:n.1270+5G>A
ENST00000636188.1:c.212+5G>A
ENST00000636199.1:c.595+5G>A	ENSP00000490871.1:n.595+5G>A
ENST00000636204.1:n.2315+5G>A
ENST00000636461.1:c.4567+5G>A
ENST00000636522.1:c.865+5G>A	ENSP00000489758.1:n.865+5G>A
ENST00000636587.1:n.1119+5G>A
ENST00000636594.1:n.560G>A
ENST00000636597.1:c.551-95G>A	ENSP00000490251.1:n.551-95G>A
ENST00000636725.1:n.1749+5G>A
ENST00000636803.1:n.1375+5G>A
ENST00000636865.1:c.877+5G>A	ENSP00000490601.1:n.877+5G>A
ENST00000636871.1:n.1398+5G>A
ENST00000636978.1:n.1145+5G>A
ENST00000636991.1:n.1478+5G>A
ENST00000637059.1:c.485+5G>A	ENSP00000490153.1:n.485+5G>A
ENST00000637088.1:n.5845+5G>A
ENST00000637114.1:n.1133+5G>A
ENST00000637268.1:n.1934+5G>A
ENST00000637291.1:n.1767+5G>A
ENST00000637442.1:n.3254+5G>A
ENST00000637455.1:c.844+5G>A	ENSP00000489628.1:n.844+5G>A
ENST00000637457.1:n.1894+5G>A
ENST00000637527.1:n.325+5G>A
ENST00000637682.1:c.878-95G>A	ENSP00000489856.1:n.878-95G>A
ENST00000637684.1:n.1243+5G>A
ENST00000637821.1:c.*1229-95G>A	ENSP00000490482.1:n.*1229-95G>A
ENST00000637914.1:n.2927+5G>A
ENST00000637982.1:n.1447+5G>A
ENST00000637994.1:n.1573+5G>A
ENST00000638014.1:c.3814+5G>A
ENST00000638063.1:c.952+5G>A	ENSP00000489760.1:n.952+5G>A
ENST00000638079.1:c.*1545+5G>A	ENSP00000490120.1:n.*1545+5G>A
ENST00000638092.1:n.1553+5G>A
ENST00000638115.1:c.*2794+5G>A	ENSP00000490296.1:n.*2794+5G>A
ENST00000273588.7:c.1033+5G>A	ENSP00000273588.3:n.1033+5G>A
ENST00000395338.6:c.1033+5G>A	ENSP00000378747.2:n.1033+5G>A
ENST00000399379.6:c.*813+5G>A	ENSP00000399943.1:n.*813+5G>A
ENST00000427987.5:c.1025+5G>A
ENST00000458307.6:c.901+5G>A	ENSP00000415619.2:n.901+5G>A
ENST00000465925.5:n.2331+5G>A
ENST00000473163.1:n.402+5G>A
ENST00000476127.5:n.792+5G>A
ENST00000476226.5:n.1098+5G>A
ENST00000495436.5:n.655-95G>A
ENST00000538581.5:c.865+5G>A	ENSP00000443200.1:n.865+5G>A
NM_000481.3:c.1033+5G>A , LRG_537t1:c.1033+5G>A	NP_000472.2:n.1033+5G>A
NM_001164710.1:c.901+5G>A	NP_001158182.1:n.901+5G>A
NM_001164711.1:c.865+5G>A	NP_001158183.1:n.865+5G>A
NM_001164712.1:c.1033+5G>A	NP_001158184.1:n.1033+5G>A
NR_028435.1:n.1247+5G>A
NM_000481.4:c.1033+5G>A MANE Select	NP_000472.2:n.1033+5G>A
NM_001164710.2:c.901+5G>A	NP_001158182.1:n.901+5G>A
NM_001164711.2:c.865+5G>A	NP_001158183.1:n.865+5G>A
NM_001164712.2:c.1033+5G>A	NP_001158184.1:n.1033+5G>A
NR_028435.2:n.1042+5G>A