Canonical Allele Identifier: CA352789637

Gene: AMT

Linked Data

• MyVariant Identifiers: chr3:g.49455404T>G (hg19) ; chr3:g.49417971T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49417971T>G , CM000665.2:g.49417971T>G	GRCh38
NC_000003.11:g.49455404T>G , CM000665.1:g.49455404T>G	GRCh37
NC_000003.10:g.49430408T>G	NCBI36
NG_015986.1:g.9708A>C , LRG_537:g.9708A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273588.9:c.880A>C MANE Select	ENSP00000273588.3:p.Lys294Gln
ENST00000395338.7:c.880A>C	ENSP00000378747.2:p.Lys294Gln
ENST00000399379.7:c.612A>C	ENSP00000399943.2:n.612A>C
ENST00000427987.6:c.736A>C	ENSP00000403821.2:p.Lys246Gln
ENST00000465925.6:n.2882A>C
ENST00000473163.2:n.3496A>C
ENST00000476127.6:n.1109A>C
ENST00000476226.6:n.1301A>C
ENST00000478594.6:n.1307A>C
ENST00000493046.6:n.2750-253A>C
ENST00000538581.6:c.736A>C	ENSP00000443200.2:p.Lys246Gln
ENST00000635772.1:n.1718A>C
ENST00000635798.1:n.392-253A>C
ENST00000635808.1:c.799A>C	ENSP00000489620.1:p.Lys267Gln
ENST00000635889.1:n.1373A>C
ENST00000635907.1:n.592-253A>C
ENST00000635936.1:n.1148A>C
ENST00000636023.1:c.*53A>C	ENSP00000489969.1:n.*53A>C
ENST00000636070.1:c.*660A>C	ENSP00000490160.1:n.*660A>C
ENST00000636148.1:n.2933A>C
ENST00000636166.1:c.1117A>C	ENSP00000490106.1:p.Lys373Gln
ENST00000636188.1:c.59A>C
ENST00000636199.1:c.442A>C	ENSP00000490871.1:p.Lys148Gln
ENST00000636204.1:n.2162A>C
ENST00000636461.1:c.4414A>C
ENST00000636522.1:c.712A>C	ENSP00000489758.1:p.Lys238Gln
ENST00000636587.1:n.966A>C
ENST00000636594.1:n.402A>C
ENST00000636597.1:c.551-253A>C	ENSP00000490251.1:n.551-253A>C
ENST00000636725.1:n.1596A>C
ENST00000636803.1:n.1222A>C
ENST00000636865.1:c.724A>C	ENSP00000490601.1:p.Lys242Gln
ENST00000636871.1:n.1245A>C
ENST00000636978.1:n.992A>C
ENST00000636991.1:n.1325A>C
ENST00000637059.1:c.332A>C	ENSP00000490153.1:n.332A>C
ENST00000637088.1:n.5692A>C
ENST00000637114.1:n.980A>C
ENST00000637268.1:n.1781A>C
ENST00000637291.1:n.1614A>C
ENST00000637442.1:n.3101A>C
ENST00000637455.1:c.691A>C	ENSP00000489628.1:p.Lys231Gln
ENST00000637457.1:n.1741A>C
ENST00000637527.1:n.172A>C
ENST00000637682.1:c.878-253A>C	ENSP00000489856.1:n.878-253A>C
ENST00000637684.1:n.1090A>C
ENST00000637821.1:c.*1190A>C	ENSP00000490482.1:n.*1190A>C
ENST00000637914.1:n.2774A>C
ENST00000637982.1:n.1294A>C
ENST00000637994.1:n.1420A>C
ENST00000638014.1:c.3661A>C
ENST00000638063.1:c.799A>C	ENSP00000489760.1:p.Lys267Gln
ENST00000638079.1:c.*1392A>C	ENSP00000490120.1:n.*1392A>C
ENST00000638092.1:n.1400A>C
ENST00000638115.1:c.*2641A>C	ENSP00000490296.1:n.*2641A>C
ENST00000273588.7:c.880A>C	ENSP00000273588.3:p.Lys294Gln
ENST00000395338.6:c.880A>C	ENSP00000378747.2:p.Lys294Gln
ENST00000399379.6:c.*660A>C	ENSP00000399943.1:n.*660A>C
ENST00000427987.5:c.872A>C
ENST00000430521.1:c.712A>C	ENSP00000388068.1:p.Lys238Gln
ENST00000458307.6:c.748A>C	ENSP00000415619.2:p.Lys250Gln
ENST00000465925.5:n.2178A>C
ENST00000473163.1:n.249A>C
ENST00000476127.5:n.639A>C
ENST00000476226.5:n.945A>C
ENST00000495436.5:n.655-253A>C
ENST00000538581.5:c.712A>C	ENSP00000443200.1:p.Lys238Gln
NM_000481.3:c.880A>C , LRG_537t1:c.880A>C	NP_000472.2:p.Lys294Gln
NM_001164710.1:c.748A>C	NP_001158182.1:p.Lys250Gln
NM_001164711.1:c.712A>C	NP_001158183.1:p.Lys238Gln
NM_001164712.1:c.880A>C	NP_001158184.1:p.Lys294Gln
NR_028435.1:n.1094A>C
NM_000481.4:c.880A>C MANE Select	NP_000472.2:p.Lys294Gln
NM_001164710.2:c.748A>C	NP_001158182.1:p.Lys250Gln
NM_001164711.2:c.712A>C	NP_001158183.1:p.Lys238Gln
NM_001164712.2:c.880A>C	NP_001158184.1:p.Lys294Gln
NR_028435.2:n.889A>C