Canonical Allele Identifier: CA352789622

Gene: AMT

Linked Data

• ClinVar Variation Id: 1468461
• ClinVar RCV Id: RCV001968995
• dbSNP Id: rs386833690
• MyVariant Identifiers: chr3:g.49455397C>A (hg19) ; chr3:g.49417964C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49417964C>A , CM000665.2:g.49417964C>A	GRCh38
NC_000003.11:g.49455397C>A , CM000665.1:g.49455397C>A	GRCh37
NC_000003.10:g.49430401C>A	NCBI36
NG_015986.1:g.9715G>T , LRG_537:g.9715G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273588.9:c.887G>T MANE Select	ENSP00000273588.3:p.Arg296Leu
ENST00000395338.7:c.887G>T	ENSP00000378747.2:p.Arg296Leu
ENST00000399379.7:c.619G>T	ENSP00000399943.2:n.619G>T
ENST00000427987.6:c.743G>T	ENSP00000403821.2:p.Arg248Leu
ENST00000465925.6:n.2889G>T
ENST00000473163.2:n.3503G>T
ENST00000476127.6:n.1116G>T
ENST00000476226.6:n.1308G>T
ENST00000478594.6:n.1314G>T
ENST00000493046.6:n.2750-246G>T
ENST00000538581.6:c.743G>T	ENSP00000443200.2:p.Arg248Leu
ENST00000635772.1:n.1725G>T
ENST00000635798.1:n.392-246G>T
ENST00000635808.1:c.806G>T	ENSP00000489620.1:p.Arg269Leu
ENST00000635889.1:n.1380G>T
ENST00000635907.1:n.592-246G>T
ENST00000635936.1:n.1155G>T
ENST00000636023.1:c.*60G>T	ENSP00000489969.1:n.*60G>T
ENST00000636070.1:c.*667G>T	ENSP00000490160.1:n.*667G>T
ENST00000636148.1:n.2940G>T
ENST00000636166.1:c.1124G>T	ENSP00000490106.1:p.Arg375Leu
ENST00000636188.1:c.66G>T
ENST00000636199.1:c.449G>T	ENSP00000490871.1:p.Arg150Leu
ENST00000636204.1:n.2169G>T
ENST00000636461.1:c.4421G>T
ENST00000636522.1:c.719G>T	ENSP00000489758.1:p.Arg240Leu
ENST00000636587.1:n.973G>T
ENST00000636594.1:n.409G>T
ENST00000636597.1:c.551-246G>T	ENSP00000490251.1:n.551-246G>T
ENST00000636725.1:n.1603G>T
ENST00000636803.1:n.1229G>T
ENST00000636865.1:c.731G>T	ENSP00000490601.1:p.Arg244Leu
ENST00000636871.1:n.1252G>T
ENST00000636978.1:n.999G>T
ENST00000636991.1:n.1332G>T
ENST00000637059.1:c.339G>T	ENSP00000490153.1:n.339G>T
ENST00000637088.1:n.5699G>T
ENST00000637114.1:n.987G>T
ENST00000637268.1:n.1788G>T
ENST00000637291.1:n.1621G>T
ENST00000637442.1:n.3108G>T
ENST00000637455.1:c.698G>T	ENSP00000489628.1:p.Arg233Leu
ENST00000637457.1:n.1748G>T
ENST00000637527.1:n.179G>T
ENST00000637682.1:c.878-246G>T	ENSP00000489856.1:n.878-246G>T
ENST00000637684.1:n.1097G>T
ENST00000637821.1:c.*1197G>T	ENSP00000490482.1:n.*1197G>T
ENST00000637914.1:n.2781G>T
ENST00000637982.1:n.1301G>T
ENST00000637994.1:n.1427G>T
ENST00000638014.1:c.3668G>T
ENST00000638063.1:c.806G>T	ENSP00000489760.1:p.Arg269Leu
ENST00000638079.1:c.*1399G>T	ENSP00000490120.1:n.*1399G>T
ENST00000638092.1:n.1407G>T
ENST00000638115.1:c.*2648G>T	ENSP00000490296.1:n.*2648G>T
ENST00000273588.7:c.887G>T	ENSP00000273588.3:p.Arg296Leu
ENST00000395338.6:c.887G>T	ENSP00000378747.2:p.Arg296Leu
ENST00000399379.6:c.*667G>T	ENSP00000399943.1:n.*667G>T
ENST00000427987.5:c.879G>T
ENST00000430521.1:c.719G>T	ENSP00000388068.1:p.Arg240Leu
ENST00000458307.6:c.755G>T	ENSP00000415619.2:p.Arg252Leu
ENST00000465925.5:n.2185G>T
ENST00000473163.1:n.256G>T
ENST00000476127.5:n.646G>T
ENST00000476226.5:n.952G>T
ENST00000495436.5:n.655-246G>T
ENST00000538581.5:c.719G>T	ENSP00000443200.1:p.Arg240Leu
NM_000481.3:c.887G>T , LRG_537t1:c.887G>T	NP_000472.2:p.Arg296Leu
NM_001164710.1:c.755G>T	NP_001158182.1:p.Arg252Leu
NM_001164711.1:c.719G>T	NP_001158183.1:p.Arg240Leu
NM_001164712.1:c.887G>T	NP_001158184.1:p.Arg296Leu
NR_028435.1:n.1101G>T
NM_000481.4:c.887G>T MANE Select	NP_000472.2:p.Arg296Leu
NM_001164710.2:c.755G>T	NP_001158182.1:p.Arg252Leu
NM_001164711.2:c.719G>T	NP_001158183.1:p.Arg240Leu
NM_001164712.2:c.887G>T	NP_001158184.1:p.Arg296Leu
NR_028435.2:n.896G>T