Canonical Allele Identifier: CA352789480

Gene: AMT

Linked Data

• MyVariant Identifiers: chr3:g.49455326G>T (hg19) ; chr3:g.49417893G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49417893G>T , CM000665.2:g.49417893G>T	GRCh38
NC_000003.11:g.49455326G>T , CM000665.1:g.49455326G>T	GRCh37
NC_000003.10:g.49430330G>T	NCBI36
NG_015986.1:g.9786C>A , LRG_537:g.9786C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273588.9:c.958C>A MANE Select	ENSP00000273588.3:p.Arg320Ser
ENST00000395338.7:c.958C>A	ENSP00000378747.2:p.Arg320Ser
ENST00000399379.7:c.690C>A	ENSP00000399943.2:n.690C>A
ENST00000427987.6:c.814C>A	ENSP00000403821.2:p.Arg272Ser
ENST00000465925.6:n.2960C>A
ENST00000473163.2:n.3574C>A
ENST00000476127.6:n.1187C>A
ENST00000476226.6:n.1379C>A
ENST00000478594.6:n.1385C>A
ENST00000493046.6:n.2750-175C>A
ENST00000538581.6:c.814C>A	ENSP00000443200.2:p.Arg272Ser
ENST00000635772.1:n.1796C>A
ENST00000635798.1:n.392-175C>A
ENST00000635808.1:c.877C>A	ENSP00000489620.1:p.Arg293Ser
ENST00000635889.1:n.1451C>A
ENST00000635907.1:n.592-175C>A
ENST00000635936.1:n.1226C>A
ENST00000636023.1:c.*131C>A	ENSP00000489969.1:n.*131C>A
ENST00000636070.1:c.*738C>A	ENSP00000490160.1:n.*738C>A
ENST00000636148.1:n.3011C>A
ENST00000636166.1:c.1195C>A	ENSP00000490106.1:p.Arg399Ser
ENST00000636188.1:c.137C>A
ENST00000636199.1:c.520C>A	ENSP00000490871.1:p.Arg174Ser
ENST00000636204.1:n.2240C>A
ENST00000636461.1:c.4492C>A
ENST00000636522.1:c.790C>A	ENSP00000489758.1:p.Arg264Ser
ENST00000636587.1:n.1044C>A
ENST00000636594.1:n.480C>A
ENST00000636597.1:c.551-175C>A	ENSP00000490251.1:n.551-175C>A
ENST00000636725.1:n.1674C>A
ENST00000636803.1:n.1300C>A
ENST00000636865.1:c.802C>A	ENSP00000490601.1:p.Arg268Ser
ENST00000636871.1:n.1323C>A
ENST00000636978.1:n.1070C>A
ENST00000636991.1:n.1403C>A
ENST00000637059.1:c.410C>A	ENSP00000490153.1:n.410C>A
ENST00000637088.1:n.5770C>A
ENST00000637114.1:n.1058C>A
ENST00000637268.1:n.1859C>A
ENST00000637291.1:n.1692C>A
ENST00000637442.1:n.3179C>A
ENST00000637455.1:c.769C>A	ENSP00000489628.1:p.Arg257Ser
ENST00000637457.1:n.1819C>A
ENST00000637527.1:n.250C>A
ENST00000637682.1:c.878-175C>A	ENSP00000489856.1:n.878-175C>A
ENST00000637684.1:n.1168C>A
ENST00000637821.1:c.*1228+40C>A	ENSP00000490482.1:n.*1228+40C>A
ENST00000637914.1:n.2852C>A
ENST00000637982.1:n.1372C>A
ENST00000637994.1:n.1498C>A
ENST00000638014.1:c.3739C>A
ENST00000638063.1:c.877C>A	ENSP00000489760.1:p.Arg293Ser
ENST00000638079.1:c.*1470C>A	ENSP00000490120.1:n.*1470C>A
ENST00000638092.1:n.1478C>A
ENST00000638115.1:c.*2719C>A	ENSP00000490296.1:n.*2719C>A
ENST00000273588.7:c.958C>A	ENSP00000273588.3:p.Arg320Ser
ENST00000395338.6:c.958C>A	ENSP00000378747.2:p.Arg320Ser
ENST00000399379.6:c.*738C>A	ENSP00000399943.1:n.*738C>A
ENST00000427987.5:c.950C>A
ENST00000458307.6:c.826C>A	ENSP00000415619.2:p.Arg276Ser
ENST00000465925.5:n.2256C>A
ENST00000473163.1:n.327C>A
ENST00000476127.5:n.717C>A
ENST00000476226.5:n.1023C>A
ENST00000495436.5:n.655-175C>A
ENST00000538581.5:c.790C>A	ENSP00000443200.1:p.Arg264Ser
NM_000481.3:c.958C>A , LRG_537t1:c.958C>A	NP_000472.2:p.Arg320Ser
NM_001164710.1:c.826C>A	NP_001158182.1:p.Arg276Ser
NM_001164711.1:c.790C>A	NP_001158183.1:p.Arg264Ser
NM_001164712.1:c.958C>A	NP_001158184.1:p.Arg320Ser
NR_028435.1:n.1172C>A
NM_000481.4:c.958C>A MANE Select	NP_000472.2:p.Arg320Ser
NM_001164710.2:c.826C>A	NP_001158182.1:p.Arg276Ser
NM_001164711.2:c.790C>A	NP_001158183.1:p.Arg264Ser
NM_001164712.2:c.958C>A	NP_001158184.1:p.Arg320Ser
NR_028435.2:n.967C>A