Canonical Allele Identifier: CA352789488

Gene: AMT

Linked Data

• MyVariant Identifiers: chr3:g.49455331C>A (hg19) ; chr3:g.49417898C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49417898C>A , CM000665.2:g.49417898C>A	GRCh38
NC_000003.11:g.49455331C>A , CM000665.1:g.49455331C>A	GRCh37
NC_000003.10:g.49430335C>A	NCBI36
NG_015986.1:g.9781G>T , LRG_537:g.9781G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273588.9:c.953G>T MANE Select	ENSP00000273588.3:p.Arg318Leu
ENST00000395338.7:c.953G>T	ENSP00000378747.2:p.Arg318Leu
ENST00000399379.7:c.685G>T	ENSP00000399943.2:n.685G>T
ENST00000427987.6:c.809G>T	ENSP00000403821.2:p.Arg270Leu
ENST00000465925.6:n.2955G>T
ENST00000473163.2:n.3569G>T
ENST00000476127.6:n.1182G>T
ENST00000476226.6:n.1374G>T
ENST00000478594.6:n.1380G>T
ENST00000493046.6:n.2750-180G>T
ENST00000538581.6:c.809G>T	ENSP00000443200.2:p.Arg270Leu
ENST00000635772.1:n.1791G>T
ENST00000635798.1:n.392-180G>T
ENST00000635808.1:c.872G>T	ENSP00000489620.1:p.Arg291Leu
ENST00000635889.1:n.1446G>T
ENST00000635907.1:n.592-180G>T
ENST00000635936.1:n.1221G>T
ENST00000636023.1:c.*126G>T	ENSP00000489969.1:n.*126G>T
ENST00000636070.1:c.*733G>T	ENSP00000490160.1:n.*733G>T
ENST00000636148.1:n.3006G>T
ENST00000636166.1:c.1190G>T	ENSP00000490106.1:p.Arg397Leu
ENST00000636188.1:c.132G>T
ENST00000636199.1:c.515G>T	ENSP00000490871.1:p.Arg172Leu
ENST00000636204.1:n.2235G>T
ENST00000636461.1:c.4487G>T
ENST00000636522.1:c.785G>T	ENSP00000489758.1:p.Arg262Leu
ENST00000636587.1:n.1039G>T
ENST00000636594.1:n.475G>T
ENST00000636597.1:c.551-180G>T	ENSP00000490251.1:n.551-180G>T
ENST00000636725.1:n.1669G>T
ENST00000636803.1:n.1295G>T
ENST00000636865.1:c.797G>T	ENSP00000490601.1:p.Arg266Leu
ENST00000636871.1:n.1318G>T
ENST00000636978.1:n.1065G>T
ENST00000636991.1:n.1398G>T
ENST00000637059.1:c.405G>T	ENSP00000490153.1:n.405G>T
ENST00000637088.1:n.5765G>T
ENST00000637114.1:n.1053G>T
ENST00000637268.1:n.1854G>T
ENST00000637291.1:n.1687G>T
ENST00000637442.1:n.3174G>T
ENST00000637455.1:c.764G>T	ENSP00000489628.1:p.Arg255Leu
ENST00000637457.1:n.1814G>T
ENST00000637527.1:n.245G>T
ENST00000637682.1:c.878-180G>T	ENSP00000489856.1:n.878-180G>T
ENST00000637684.1:n.1163G>T
ENST00000637821.1:c.*1228+35G>T	ENSP00000490482.1:n.*1228+35G>T
ENST00000637914.1:n.2847G>T
ENST00000637982.1:n.1367G>T
ENST00000637994.1:n.1493G>T
ENST00000638014.1:c.3734G>T
ENST00000638063.1:c.872G>T	ENSP00000489760.1:p.Arg291Leu
ENST00000638079.1:c.*1465G>T	ENSP00000490120.1:n.*1465G>T
ENST00000638092.1:n.1473G>T
ENST00000638115.1:c.*2714G>T	ENSP00000490296.1:n.*2714G>T
ENST00000273588.7:c.953G>T	ENSP00000273588.3:p.Arg318Leu
ENST00000395338.6:c.953G>T	ENSP00000378747.2:p.Arg318Leu
ENST00000399379.6:c.*733G>T	ENSP00000399943.1:n.*733G>T
ENST00000427987.5:c.945G>T
ENST00000430521.1:c.785G>T	ENSP00000388068.1:p.Arg262Leu
ENST00000458307.6:c.821G>T	ENSP00000415619.2:p.Arg274Leu
ENST00000465925.5:n.2251G>T
ENST00000473163.1:n.322G>T
ENST00000476127.5:n.712G>T
ENST00000476226.5:n.1018G>T
ENST00000495436.5:n.655-180G>T
ENST00000538581.5:c.785G>T	ENSP00000443200.1:p.Arg262Leu
NM_000481.3:c.953G>T , LRG_537t1:c.953G>T	NP_000472.2:p.Arg318Leu
NM_001164710.1:c.821G>T	NP_001158182.1:p.Arg274Leu
NM_001164711.1:c.785G>T	NP_001158183.1:p.Arg262Leu
NM_001164712.1:c.953G>T	NP_001158184.1:p.Arg318Leu
NR_028435.1:n.1167G>T
NM_000481.4:c.953G>T MANE Select	NP_000472.2:p.Arg318Leu
NM_001164710.2:c.821G>T	NP_001158182.1:p.Arg274Leu
NM_001164711.2:c.785G>T	NP_001158183.1:p.Arg262Leu
NM_001164712.2:c.953G>T	NP_001158184.1:p.Arg318Leu
NR_028435.2:n.962G>T