Canonical Allele Identifier: CA352789495

Gene: AMT

Linked Data

• MyVariant Identifiers: chr3:g.49455335G>C (hg19) ; chr3:g.49417902G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49417902G>C , CM000665.2:g.49417902G>C	GRCh38
NC_000003.11:g.49455335G>C , CM000665.1:g.49455335G>C	GRCh37
NC_000003.10:g.49430339G>C	NCBI36
NG_015986.1:g.9777C>G , LRG_537:g.9777C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273588.9:c.949C>G MANE Select	ENSP00000273588.3:p.Gln317Glu
ENST00000395338.7:c.949C>G	ENSP00000378747.2:p.Gln317Glu
ENST00000399379.7:c.681C>G	ENSP00000399943.2:n.681C>G
ENST00000427987.6:c.805C>G	ENSP00000403821.2:p.Gln269Glu
ENST00000465925.6:n.2951C>G
ENST00000473163.2:n.3565C>G
ENST00000476127.6:n.1178C>G
ENST00000476226.6:n.1370C>G
ENST00000478594.6:n.1376C>G
ENST00000493046.6:n.2750-184C>G
ENST00000538581.6:c.805C>G	ENSP00000443200.2:p.Gln269Glu
ENST00000635772.1:n.1787C>G
ENST00000635798.1:n.392-184C>G
ENST00000635808.1:c.868C>G	ENSP00000489620.1:p.Gln290Glu
ENST00000635889.1:n.1442C>G
ENST00000635907.1:n.592-184C>G
ENST00000635936.1:n.1217C>G
ENST00000636023.1:c.*122C>G	ENSP00000489969.1:n.*122C>G
ENST00000636070.1:c.*729C>G	ENSP00000490160.1:n.*729C>G
ENST00000636148.1:n.3002C>G
ENST00000636166.1:c.1186C>G	ENSP00000490106.1:p.Gln396Glu
ENST00000636188.1:c.128C>G
ENST00000636199.1:c.511C>G	ENSP00000490871.1:p.Gln171Glu
ENST00000636204.1:n.2231C>G
ENST00000636461.1:c.4483C>G
ENST00000636522.1:c.781C>G	ENSP00000489758.1:p.Gln261Glu
ENST00000636587.1:n.1035C>G
ENST00000636594.1:n.471C>G
ENST00000636597.1:c.551-184C>G	ENSP00000490251.1:n.551-184C>G
ENST00000636725.1:n.1665C>G
ENST00000636803.1:n.1291C>G
ENST00000636865.1:c.793C>G	ENSP00000490601.1:p.Gln265Glu
ENST00000636871.1:n.1314C>G
ENST00000636978.1:n.1061C>G
ENST00000636991.1:n.1394C>G
ENST00000637059.1:c.401C>G	ENSP00000490153.1:n.401C>G
ENST00000637088.1:n.5761C>G
ENST00000637114.1:n.1049C>G
ENST00000637268.1:n.1850C>G
ENST00000637291.1:n.1683C>G
ENST00000637442.1:n.3170C>G
ENST00000637455.1:c.760C>G	ENSP00000489628.1:p.Gln254Glu
ENST00000637457.1:n.1810C>G
ENST00000637527.1:n.241C>G
ENST00000637682.1:c.878-184C>G	ENSP00000489856.1:n.878-184C>G
ENST00000637684.1:n.1159C>G
ENST00000637821.1:c.*1228+31C>G	ENSP00000490482.1:n.*1228+31C>G
ENST00000637914.1:n.2843C>G
ENST00000637982.1:n.1363C>G
ENST00000637994.1:n.1489C>G
ENST00000638014.1:c.3730C>G
ENST00000638063.1:c.868C>G	ENSP00000489760.1:p.Gln290Glu
ENST00000638079.1:c.*1461C>G	ENSP00000490120.1:n.*1461C>G
ENST00000638092.1:n.1469C>G
ENST00000638115.1:c.*2710C>G	ENSP00000490296.1:n.*2710C>G
ENST00000273588.7:c.949C>G	ENSP00000273588.3:p.Gln317Glu
ENST00000395338.6:c.949C>G	ENSP00000378747.2:p.Gln317Glu
ENST00000399379.6:c.*729C>G	ENSP00000399943.1:n.*729C>G
ENST00000427987.5:c.941C>G
ENST00000430521.1:c.781C>G	ENSP00000388068.1:p.Gln261Glu
ENST00000458307.6:c.817C>G	ENSP00000415619.2:p.Gln273Glu
ENST00000465925.5:n.2247C>G
ENST00000473163.1:n.318C>G
ENST00000476127.5:n.708C>G
ENST00000476226.5:n.1014C>G
ENST00000495436.5:n.655-184C>G
ENST00000538581.5:c.781C>G	ENSP00000443200.1:p.Gln261Glu
NM_000481.3:c.949C>G , LRG_537t1:c.949C>G	NP_000472.2:p.Gln317Glu
NM_001164710.1:c.817C>G	NP_001158182.1:p.Gln273Glu
NM_001164711.1:c.781C>G	NP_001158183.1:p.Gln261Glu
NM_001164712.1:c.949C>G	NP_001158184.1:p.Gln317Glu
NR_028435.1:n.1163C>G
NM_000481.4:c.949C>G MANE Select	NP_000472.2:p.Gln317Glu
NM_001164710.2:c.817C>G	NP_001158182.1:p.Gln273Glu
NM_001164711.2:c.781C>G	NP_001158183.1:p.Gln261Glu
NM_001164712.2:c.949C>G	NP_001158184.1:p.Gln317Glu
NR_028435.2:n.958C>G