Canonical Allele Identifier: CA352789628

Gene: AMT

Linked Data

• MyVariant Identifiers: chr3:g.49455401G>T (hg19) ; chr3:g.49417968G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49417968G>T , CM000665.2:g.49417968G>T	GRCh38
NC_000003.11:g.49455401G>T , CM000665.1:g.49455401G>T	GRCh37
NC_000003.10:g.49430405G>T	NCBI36
NG_015986.1:g.9711C>A , LRG_537:g.9711C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273588.9:c.883C>A MANE Select	ENSP00000273588.3:p.Arg295Ser
ENST00000395338.7:c.883C>A	ENSP00000378747.2:p.Arg295Ser
ENST00000399379.7:c.615C>A	ENSP00000399943.2:n.615C>A
ENST00000427987.6:c.739C>A	ENSP00000403821.2:p.Arg247Ser
ENST00000465925.6:n.2885C>A
ENST00000473163.2:n.3499C>A
ENST00000476127.6:n.1112C>A
ENST00000476226.6:n.1304C>A
ENST00000478594.6:n.1310C>A
ENST00000493046.6:n.2750-250C>A
ENST00000538581.6:c.739C>A	ENSP00000443200.2:p.Arg247Ser
ENST00000635772.1:n.1721C>A
ENST00000635798.1:n.392-250C>A
ENST00000635808.1:c.802C>A	ENSP00000489620.1:p.Arg268Ser
ENST00000635889.1:n.1376C>A
ENST00000635907.1:n.592-250C>A
ENST00000635936.1:n.1151C>A
ENST00000636023.1:c.*56C>A	ENSP00000489969.1:n.*56C>A
ENST00000636070.1:c.*663C>A	ENSP00000490160.1:n.*663C>A
ENST00000636148.1:n.2936C>A
ENST00000636166.1:c.1120C>A	ENSP00000490106.1:p.Arg374Ser
ENST00000636188.1:c.62C>A
ENST00000636199.1:c.445C>A	ENSP00000490871.1:p.Arg149Ser
ENST00000636204.1:n.2165C>A
ENST00000636461.1:c.4417C>A
ENST00000636522.1:c.715C>A	ENSP00000489758.1:p.Arg239Ser
ENST00000636587.1:n.969C>A
ENST00000636594.1:n.405C>A
ENST00000636597.1:c.551-250C>A	ENSP00000490251.1:n.551-250C>A
ENST00000636725.1:n.1599C>A
ENST00000636803.1:n.1225C>A
ENST00000636865.1:c.727C>A	ENSP00000490601.1:p.Arg243Ser
ENST00000636871.1:n.1248C>A
ENST00000636978.1:n.995C>A
ENST00000636991.1:n.1328C>A
ENST00000637059.1:c.335C>A	ENSP00000490153.1:n.335C>A
ENST00000637088.1:n.5695C>A
ENST00000637114.1:n.983C>A
ENST00000637268.1:n.1784C>A
ENST00000637291.1:n.1617C>A
ENST00000637442.1:n.3104C>A
ENST00000637455.1:c.694C>A	ENSP00000489628.1:p.Arg232Ser
ENST00000637457.1:n.1744C>A
ENST00000637527.1:n.175C>A
ENST00000637682.1:c.878-250C>A	ENSP00000489856.1:n.878-250C>A
ENST00000637684.1:n.1093C>A
ENST00000637821.1:c.*1193C>A	ENSP00000490482.1:n.*1193C>A
ENST00000637914.1:n.2777C>A
ENST00000637982.1:n.1297C>A
ENST00000637994.1:n.1423C>A
ENST00000638014.1:c.3664C>A
ENST00000638063.1:c.802C>A	ENSP00000489760.1:p.Arg268Ser
ENST00000638079.1:c.*1395C>A	ENSP00000490120.1:n.*1395C>A
ENST00000638092.1:n.1403C>A
ENST00000638115.1:c.*2644C>A	ENSP00000490296.1:n.*2644C>A
ENST00000273588.7:c.883C>A	ENSP00000273588.3:p.Arg295Ser
ENST00000395338.6:c.883C>A	ENSP00000378747.2:p.Arg295Ser
ENST00000399379.6:c.*663C>A	ENSP00000399943.1:n.*663C>A
ENST00000427987.5:c.875C>A
ENST00000430521.1:c.715C>A	ENSP00000388068.1:p.Arg239Ser
ENST00000458307.6:c.751C>A	ENSP00000415619.2:p.Arg251Ser
ENST00000465925.5:n.2181C>A
ENST00000473163.1:n.252C>A
ENST00000476127.5:n.642C>A
ENST00000476226.5:n.948C>A
ENST00000495436.5:n.655-250C>A
ENST00000538581.5:c.715C>A	ENSP00000443200.1:p.Arg239Ser
NM_000481.3:c.883C>A , LRG_537t1:c.883C>A	NP_000472.2:p.Arg295Ser
NM_001164710.1:c.751C>A	NP_001158182.1:p.Arg251Ser
NM_001164711.1:c.715C>A	NP_001158183.1:p.Arg239Ser
NM_001164712.1:c.883C>A	NP_001158184.1:p.Arg295Ser
NR_028435.1:n.1097C>A
NM_000481.4:c.883C>A MANE Select	NP_000472.2:p.Arg295Ser
NM_001164710.2:c.751C>A	NP_001158182.1:p.Arg251Ser
NM_001164711.2:c.715C>A	NP_001158183.1:p.Arg239Ser
NM_001164712.2:c.883C>A	NP_001158184.1:p.Arg295Ser
NR_028435.2:n.892C>A