Canonical Allele Identifier: CA352789487

Gene: AMT

Linked Data

• MyVariant Identifiers: chr3:g.49455329T>C (hg19) ; chr3:g.49417896T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49417896T>C , CM000665.2:g.49417896T>C	GRCh38
NC_000003.11:g.49455329T>C , CM000665.1:g.49455329T>C	GRCh37
NC_000003.10:g.49430333T>C	NCBI36
NG_015986.1:g.9783A>G , LRG_537:g.9783A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273588.9:c.955A>G MANE Select	ENSP00000273588.3:p.Arg319Gly
ENST00000395338.7:c.955A>G	ENSP00000378747.2:p.Arg319Gly
ENST00000399379.7:c.687A>G	ENSP00000399943.2:n.687A>G
ENST00000427987.6:c.811A>G	ENSP00000403821.2:p.Arg271Gly
ENST00000465925.6:n.2957A>G
ENST00000473163.2:n.3571A>G
ENST00000476127.6:n.1184A>G
ENST00000476226.6:n.1376A>G
ENST00000478594.6:n.1382A>G
ENST00000493046.6:n.2750-178A>G
ENST00000538581.6:c.811A>G	ENSP00000443200.2:p.Arg271Gly
ENST00000635772.1:n.1793A>G
ENST00000635798.1:n.392-178A>G
ENST00000635808.1:c.874A>G	ENSP00000489620.1:p.Arg292Gly
ENST00000635889.1:n.1448A>G
ENST00000635907.1:n.592-178A>G
ENST00000635936.1:n.1223A>G
ENST00000636023.1:c.*128A>G	ENSP00000489969.1:n.*128A>G
ENST00000636070.1:c.*735A>G	ENSP00000490160.1:n.*735A>G
ENST00000636148.1:n.3008A>G
ENST00000636166.1:c.1192A>G	ENSP00000490106.1:p.Arg398Gly
ENST00000636188.1:c.134A>G
ENST00000636199.1:c.517A>G	ENSP00000490871.1:p.Arg173Gly
ENST00000636204.1:n.2237A>G
ENST00000636461.1:c.4489A>G
ENST00000636522.1:c.787A>G	ENSP00000489758.1:p.Arg263Gly
ENST00000636587.1:n.1041A>G
ENST00000636594.1:n.477A>G
ENST00000636597.1:c.551-178A>G	ENSP00000490251.1:n.551-178A>G
ENST00000636725.1:n.1671A>G
ENST00000636803.1:n.1297A>G
ENST00000636865.1:c.799A>G	ENSP00000490601.1:p.Arg267Gly
ENST00000636871.1:n.1320A>G
ENST00000636978.1:n.1067A>G
ENST00000636991.1:n.1400A>G
ENST00000637059.1:c.407A>G	ENSP00000490153.1:n.407A>G
ENST00000637088.1:n.5767A>G
ENST00000637114.1:n.1055A>G
ENST00000637268.1:n.1856A>G
ENST00000637291.1:n.1689A>G
ENST00000637442.1:n.3176A>G
ENST00000637455.1:c.766A>G	ENSP00000489628.1:p.Arg256Gly
ENST00000637457.1:n.1816A>G
ENST00000637527.1:n.247A>G
ENST00000637682.1:c.878-178A>G	ENSP00000489856.1:n.878-178A>G
ENST00000637684.1:n.1165A>G
ENST00000637821.1:c.*1228+37A>G	ENSP00000490482.1:n.*1228+37A>G
ENST00000637914.1:n.2849A>G
ENST00000637982.1:n.1369A>G
ENST00000637994.1:n.1495A>G
ENST00000638014.1:c.3736A>G
ENST00000638063.1:c.874A>G	ENSP00000489760.1:p.Arg292Gly
ENST00000638079.1:c.*1467A>G	ENSP00000490120.1:n.*1467A>G
ENST00000638092.1:n.1475A>G
ENST00000638115.1:c.*2716A>G	ENSP00000490296.1:n.*2716A>G
ENST00000273588.7:c.955A>G	ENSP00000273588.3:p.Arg319Gly
ENST00000395338.6:c.955A>G	ENSP00000378747.2:p.Arg319Gly
ENST00000399379.6:c.*735A>G	ENSP00000399943.1:n.*735A>G
ENST00000427987.5:c.947A>G
ENST00000430521.1:c.787A>G
ENST00000458307.6:c.823A>G	ENSP00000415619.2:p.Arg275Gly
ENST00000465925.5:n.2253A>G
ENST00000473163.1:n.324A>G
ENST00000476127.5:n.714A>G
ENST00000476226.5:n.1020A>G
ENST00000495436.5:n.655-178A>G
ENST00000538581.5:c.787A>G	ENSP00000443200.1:p.Arg263Gly
NM_000481.3:c.955A>G , LRG_537t1:c.955A>G	NP_000472.2:p.Arg319Gly
NM_001164710.1:c.823A>G	NP_001158182.1:p.Arg275Gly
NM_001164711.1:c.787A>G	NP_001158183.1:p.Arg263Gly
NM_001164712.1:c.955A>G	NP_001158184.1:p.Arg319Gly
NR_028435.1:n.1169A>G
NM_000481.4:c.955A>G MANE Select	NP_000472.2:p.Arg319Gly
NM_001164710.2:c.823A>G	NP_001158182.1:p.Arg275Gly
NM_001164711.2:c.787A>G	NP_001158183.1:p.Arg263Gly
NM_001164712.2:c.955A>G	NP_001158184.1:p.Arg319Gly
NR_028435.2:n.964A>G