Canonical Allele Identifier: CA2577770599

Gene: AMT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49417797C>T , CM000665.2:g.49417797C>T	GRCh38
NC_000003.11:g.49455230C>T , CM000665.1:g.49455230C>T	GRCh37
NC_000003.10:g.49430234C>T	NCBI36
NG_015986.1:g.9882G>A , LRG_537:g.9882G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000273588.9:c.1033+21G>A MANE Select	ENSP00000273588.3:n.1033+21G>A
ENST00000395338.7:c.1033+21G>A	ENSP00000378747.2:n.1033+21G>A
ENST00000399379.7:c.765+21G>A	ENSP00000399943.2:n.765+21G>A
ENST00000427987.6:c.889+21G>A	ENSP00000403821.2:n.889+21G>A
ENST00000465925.6:n.3035+21G>A
ENST00000473163.2:n.3649+21G>A
ENST00000476127.6:n.1262+21G>A
ENST00000476226.6:n.1454+21G>A
ENST00000478594.6:n.1460+21G>A
ENST00000493046.6:n.2750-79G>A
ENST00000538581.6:c.889+21G>A	ENSP00000443200.2:n.889+21G>A
ENST00000635772.1:n.1871+21G>A
ENST00000635798.1:n.392-79G>A
ENST00000635808.1:c.952+21G>A	ENSP00000489620.1:n.952+21G>A
ENST00000635889.1:n.1526+21G>A
ENST00000635907.1:n.592-79G>A
ENST00000635936.1:n.1301+21G>A
ENST00000636023.1:c.*206+21G>A	ENSP00000489969.1:n.*206+21G>A
ENST00000636070.1:c.*813+21G>A	ENSP00000490160.1:n.*813+21G>A
ENST00000636148.1:n.3086+21G>A
ENST00000636166.1:c.1270+21G>A	ENSP00000490106.1:n.1270+21G>A
ENST00000636188.1:c.212+21G>A
ENST00000636199.1:c.595+21G>A	ENSP00000490871.1:n.595+21G>A
ENST00000636204.1:n.2315+21G>A
ENST00000636461.1:c.4567+21G>A
ENST00000636522.1:c.865+21G>A	ENSP00000489758.1:n.865+21G>A
ENST00000636587.1:n.1119+21G>A
ENST00000636594.1:n.576G>A
ENST00000636597.1:c.551-79G>A	ENSP00000490251.1:n.551-79G>A
ENST00000636725.1:n.1749+21G>A
ENST00000636803.1:n.1375+21G>A
ENST00000636865.1:c.877+21G>A	ENSP00000490601.1:n.877+21G>A
ENST00000636871.1:n.1398+21G>A
ENST00000636978.1:n.1145+21G>A
ENST00000636991.1:n.1478+21G>A
ENST00000637059.1:c.485+21G>A	ENSP00000490153.1:n.485+21G>A
ENST00000637088.1:n.5845+21G>A
ENST00000637114.1:n.1133+21G>A
ENST00000637268.1:n.1934+21G>A
ENST00000637291.1:n.1767+21G>A
ENST00000637442.1:n.3254+21G>A
ENST00000637455.1:c.844+21G>A	ENSP00000489628.1:n.844+21G>A
ENST00000637457.1:n.1894+21G>A
ENST00000637527.1:n.325+21G>A
ENST00000637682.1:c.878-79G>A	ENSP00000489856.1:n.878-79G>A
ENST00000637684.1:n.1243+21G>A
ENST00000637821.1:c.*1229-79G>A	ENSP00000490482.1:n.*1229-79G>A
ENST00000637914.1:n.2927+21G>A
ENST00000637982.1:n.1447+21G>A
ENST00000637994.1:n.1573+21G>A
ENST00000638014.1:c.3814+21G>A
ENST00000638063.1:c.952+21G>A	ENSP00000489760.1:n.952+21G>A
ENST00000638079.1:c.*1545+21G>A	ENSP00000490120.1:n.*1545+21G>A
ENST00000638092.1:n.1553+21G>A
ENST00000638115.1:c.*2794+21G>A	ENSP00000490296.1:n.*2794+21G>A
ENST00000273588.7:c.1033+21G>A	ENSP00000273588.3:n.1033+21G>A
ENST00000395338.6:c.1033+21G>A	ENSP00000378747.2:n.1033+21G>A
ENST00000399379.6:c.*813+21G>A	ENSP00000399943.1:n.*813+21G>A
ENST00000427987.5:c.1025+21G>A
ENST00000458307.6:c.901+21G>A	ENSP00000415619.2:n.901+21G>A
ENST00000465925.5:n.2331+21G>A
ENST00000473163.1:n.402+21G>A
ENST00000476127.5:n.792+21G>A
ENST00000476226.5:n.1098+21G>A
ENST00000495436.5:n.655-79G>A
ENST00000538581.5:c.865+21G>A	ENSP00000443200.1:n.865+21G>A
NM_000481.3:c.1033+21G>A , LRG_537t1:c.1033+21G>A	NP_000472.2:n.1033+21G>A
NM_001164710.1:c.901+21G>A	NP_001158182.1:n.901+21G>A
NM_001164711.1:c.865+21G>A	NP_001158183.1:n.865+21G>A
NM_001164712.1:c.1033+21G>A	NP_001158184.1:n.1033+21G>A
NR_028435.1:n.1247+21G>A
NM_000481.4:c.1033+21G>A MANE Select	NP_000472.2:n.1033+21G>A
NM_001164710.2:c.901+21G>A	NP_001158182.1:n.901+21G>A
NM_001164711.2:c.865+21G>A	NP_001158183.1:n.865+21G>A
NM_001164712.2:c.1033+21G>A	NP_001158184.1:n.1033+21G>A
NR_028435.2:n.1042+21G>A