Canonical Allele Identifier: CA352789499

Gene: AMT

Linked Data

• MyVariant Identifiers: chr3:g.49455337A>C (hg19) ; chr3:g.49417904A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49417904A>C , CM000665.2:g.49417904A>C	GRCh38
NC_000003.11:g.49455337A>C , CM000665.1:g.49455337A>C	GRCh37
NC_000003.10:g.49430341A>C	NCBI36
NG_015986.1:g.9775T>G , LRG_537:g.9775T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000273588.9:c.947T>G MANE Select	ENSP00000273588.3:p.Val316Gly
ENST00000395338.7:c.947T>G	ENSP00000378747.2:p.Val316Gly
ENST00000399379.7:c.679T>G	ENSP00000399943.2:n.679T>G
ENST00000427987.6:c.803T>G	ENSP00000403821.2:p.Val268Gly
ENST00000465925.6:n.2949T>G
ENST00000473163.2:n.3563T>G
ENST00000476127.6:n.1176T>G
ENST00000476226.6:n.1368T>G
ENST00000478594.6:n.1374T>G
ENST00000493046.6:n.2750-186T>G
ENST00000538581.6:c.803T>G	ENSP00000443200.2:p.Val268Gly
ENST00000635772.1:n.1785T>G
ENST00000635798.1:n.392-186T>G
ENST00000635808.1:c.866T>G	ENSP00000489620.1:p.Val289Gly
ENST00000635889.1:n.1440T>G
ENST00000635907.1:n.592-186T>G
ENST00000635936.1:n.1215T>G
ENST00000636023.1:c.*120T>G	ENSP00000489969.1:n.*120T>G
ENST00000636070.1:c.*727T>G	ENSP00000490160.1:n.*727T>G
ENST00000636148.1:n.3000T>G
ENST00000636166.1:c.1184T>G	ENSP00000490106.1:p.Val395Gly
ENST00000636188.1:c.126T>G
ENST00000636199.1:c.509T>G	ENSP00000490871.1:p.Val170Gly
ENST00000636204.1:n.2229T>G
ENST00000636461.1:c.4481T>G
ENST00000636522.1:c.779T>G	ENSP00000489758.1:p.Val260Gly
ENST00000636587.1:n.1033T>G
ENST00000636594.1:n.469T>G
ENST00000636597.1:c.551-186T>G	ENSP00000490251.1:n.551-186T>G
ENST00000636725.1:n.1663T>G
ENST00000636803.1:n.1289T>G
ENST00000636865.1:c.791T>G	ENSP00000490601.1:p.Val264Gly
ENST00000636871.1:n.1312T>G
ENST00000636978.1:n.1059T>G
ENST00000636991.1:n.1392T>G
ENST00000637059.1:c.399T>G	ENSP00000490153.1:n.399T>G
ENST00000637088.1:n.5759T>G
ENST00000637114.1:n.1047T>G
ENST00000637268.1:n.1848T>G
ENST00000637291.1:n.1681T>G
ENST00000637442.1:n.3168T>G
ENST00000637455.1:c.758T>G	ENSP00000489628.1:p.Val253Gly
ENST00000637457.1:n.1808T>G
ENST00000637527.1:n.239T>G
ENST00000637682.1:c.878-186T>G	ENSP00000489856.1:n.878-186T>G
ENST00000637684.1:n.1157T>G
ENST00000637821.1:c.*1228+29T>G	ENSP00000490482.1:n.*1228+29T>G
ENST00000637914.1:n.2841T>G
ENST00000637982.1:n.1361T>G
ENST00000637994.1:n.1487T>G
ENST00000638014.1:c.3728T>G
ENST00000638063.1:c.866T>G	ENSP00000489760.1:p.Val289Gly
ENST00000638079.1:c.*1459T>G	ENSP00000490120.1:n.*1459T>G
ENST00000638092.1:n.1467T>G
ENST00000638115.1:c.*2708T>G	ENSP00000490296.1:n.*2708T>G
ENST00000273588.7:c.947T>G	ENSP00000273588.3:p.Val316Gly
ENST00000395338.6:c.947T>G	ENSP00000378747.2:p.Val316Gly
ENST00000399379.6:c.*727T>G	ENSP00000399943.1:n.*727T>G
ENST00000427987.5:c.939T>G
ENST00000430521.1:c.779T>G	ENSP00000388068.1:p.Val260Gly
ENST00000458307.6:c.815T>G	ENSP00000415619.2:p.Val272Gly
ENST00000465925.5:n.2245T>G
ENST00000473163.1:n.316T>G
ENST00000476127.5:n.706T>G
ENST00000476226.5:n.1012T>G
ENST00000495436.5:n.655-186T>G
ENST00000538581.5:c.779T>G	ENSP00000443200.1:p.Val260Gly
NM_000481.3:c.947T>G , LRG_537t1:c.947T>G	NP_000472.2:p.Val316Gly
NM_001164710.1:c.815T>G	NP_001158182.1:p.Val272Gly
NM_001164711.1:c.779T>G	NP_001158183.1:p.Val260Gly
NM_001164712.1:c.947T>G	NP_001158184.1:p.Val316Gly
NR_028435.1:n.1161T>G
NM_000481.4:c.947T>G MANE Select	NP_000472.2:p.Val316Gly
NM_001164710.2:c.815T>G	NP_001158182.1:p.Val272Gly
NM_001164711.2:c.779T>G	NP_001158183.1:p.Val260Gly
NM_001164712.2:c.947T>G	NP_001158184.1:p.Val316Gly
NR_028435.2:n.956T>G