Canonical Allele Identifier: CA352789277

Gene: AMT

Linked Data

• ClinVar Variation Id: 2105835
• ClinVar RCV Id: RCV003023656
• MyVariant Identifiers: chr3:g.49455250C>T (hg19) ; chr3:g.49417817C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49417817C>T , CM000665.2:g.49417817C>T	GRCh38
NC_000003.11:g.49455250C>T , CM000665.1:g.49455250C>T	GRCh37
NC_000003.10:g.49430254C>T	NCBI36
NG_015986.1:g.9862G>A , LRG_537:g.9862G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000273588.9:c.1033+1G>A MANE Select	ENSP00000273588.3:n.1033+1G>A
ENST00000395338.7:c.1033+1G>A	ENSP00000378747.2:n.1033+1G>A
ENST00000399379.7:c.765+1G>A	ENSP00000399943.2:n.765+1G>A
ENST00000427987.6:c.889+1G>A	ENSP00000403821.2:n.889+1G>A
ENST00000465925.6:n.3035+1G>A
ENST00000473163.2:n.3649+1G>A
ENST00000476127.6:n.1262+1G>A
ENST00000476226.6:n.1454+1G>A
ENST00000478594.6:n.1460+1G>A
ENST00000493046.6:n.2750-99G>A
ENST00000538581.6:c.889+1G>A	ENSP00000443200.2:n.889+1G>A
ENST00000635772.1:n.1871+1G>A
ENST00000635798.1:n.392-99G>A
ENST00000635808.1:c.952+1G>A	ENSP00000489620.1:n.952+1G>A
ENST00000635889.1:n.1526+1G>A
ENST00000635907.1:n.592-99G>A
ENST00000635936.1:n.1301+1G>A
ENST00000636023.1:c.*206+1G>A	ENSP00000489969.1:n.*206+1G>A
ENST00000636070.1:c.*813+1G>A	ENSP00000490160.1:n.*813+1G>A
ENST00000636148.1:n.3086+1G>A
ENST00000636166.1:c.1270+1G>A	ENSP00000490106.1:n.1270+1G>A
ENST00000636188.1:c.212+1G>A
ENST00000636199.1:c.595+1G>A	ENSP00000490871.1:n.595+1G>A
ENST00000636204.1:n.2315+1G>A
ENST00000636461.1:c.4567+1G>A
ENST00000636522.1:c.865+1G>A	ENSP00000489758.1:n.865+1G>A
ENST00000636587.1:n.1119+1G>A
ENST00000636594.1:n.556G>A
ENST00000636597.1:c.551-99G>A	ENSP00000490251.1:n.551-99G>A
ENST00000636725.1:n.1749+1G>A
ENST00000636803.1:n.1375+1G>A
ENST00000636865.1:c.877+1G>A	ENSP00000490601.1:n.877+1G>A
ENST00000636871.1:n.1398+1G>A
ENST00000636978.1:n.1145+1G>A
ENST00000636991.1:n.1478+1G>A
ENST00000637059.1:c.485+1G>A	ENSP00000490153.1:n.485+1G>A
ENST00000637088.1:n.5845+1G>A
ENST00000637114.1:n.1133+1G>A
ENST00000637268.1:n.1934+1G>A
ENST00000637291.1:n.1767+1G>A
ENST00000637442.1:n.3254+1G>A
ENST00000637455.1:c.844+1G>A	ENSP00000489628.1:n.844+1G>A
ENST00000637457.1:n.1894+1G>A
ENST00000637527.1:n.325+1G>A
ENST00000637682.1:c.878-99G>A	ENSP00000489856.1:n.878-99G>A
ENST00000637684.1:n.1243+1G>A
ENST00000637821.1:c.*1229-99G>A	ENSP00000490482.1:n.*1229-99G>A
ENST00000637914.1:n.2927+1G>A
ENST00000637982.1:n.1447+1G>A
ENST00000637994.1:n.1573+1G>A
ENST00000638014.1:c.3814+1G>A
ENST00000638063.1:c.952+1G>A	ENSP00000489760.1:n.952+1G>A
ENST00000638079.1:c.*1545+1G>A	ENSP00000490120.1:n.*1545+1G>A
ENST00000638092.1:n.1553+1G>A
ENST00000638115.1:c.*2794+1G>A	ENSP00000490296.1:n.*2794+1G>A
ENST00000273588.7:c.1033+1G>A	ENSP00000273588.3:n.1033+1G>A
ENST00000395338.6:c.1033+1G>A	ENSP00000378747.2:n.1033+1G>A
ENST00000399379.6:c.*813+1G>A	ENSP00000399943.1:n.*813+1G>A
ENST00000427987.5:c.1025+1G>A
ENST00000458307.6:c.901+1G>A	ENSP00000415619.2:n.901+1G>A
ENST00000465925.5:n.2331+1G>A
ENST00000473163.1:n.402+1G>A
ENST00000476127.5:n.792+1G>A
ENST00000476226.5:n.1098+1G>A
ENST00000495436.5:n.655-99G>A
ENST00000538581.5:c.865+1G>A	ENSP00000443200.1:n.865+1G>A
NM_000481.3:c.1033+1G>A , LRG_537t1:c.1033+1G>A	NP_000472.2:n.1033+1G>A
NM_001164710.1:c.901+1G>A	NP_001158182.1:n.901+1G>A
NM_001164711.1:c.865+1G>A	NP_001158183.1:n.865+1G>A
NM_001164712.1:c.1033+1G>A	NP_001158184.1:n.1033+1G>A
NR_028435.1:n.1247+1G>A
NM_000481.4:c.1033+1G>A MANE Select	NP_000472.2:n.1033+1G>A
NM_001164710.2:c.901+1G>A	NP_001158182.1:n.901+1G>A
NM_001164711.2:c.865+1G>A	NP_001158183.1:n.865+1G>A
NM_001164712.2:c.1033+1G>A	NP_001158184.1:n.1033+1G>A
NR_028435.2:n.1042+1G>A