Canonical Allele Identifier: CA352789631

Gene: AMT

Linked Data

• MyVariant Identifiers: chr3:g.49455402C>G (hg19) ; chr3:g.49417969C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49417969C>G , CM000665.2:g.49417969C>G	GRCh38
NC_000003.11:g.49455402C>G , CM000665.1:g.49455402C>G	GRCh37
NC_000003.10:g.49430406C>G	NCBI36
NG_015986.1:g.9710G>C , LRG_537:g.9710G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273588.9:c.882G>C MANE Select	ENSP00000273588.3:p.Lys294Asn
ENST00000395338.7:c.882G>C	ENSP00000378747.2:p.Lys294Asn
ENST00000399379.7:c.614G>C	ENSP00000399943.2:n.614G>C
ENST00000427987.6:c.738G>C	ENSP00000403821.2:p.Lys246Asn
ENST00000465925.6:n.2884G>C
ENST00000473163.2:n.3498G>C
ENST00000476127.6:n.1111G>C
ENST00000476226.6:n.1303G>C
ENST00000478594.6:n.1309G>C
ENST00000493046.6:n.2750-251G>C
ENST00000538581.6:c.738G>C	ENSP00000443200.2:p.Lys246Asn
ENST00000635772.1:n.1720G>C
ENST00000635798.1:n.392-251G>C
ENST00000635808.1:c.801G>C	ENSP00000489620.1:p.Lys267Asn
ENST00000635889.1:n.1375G>C
ENST00000635907.1:n.592-251G>C
ENST00000635936.1:n.1150G>C
ENST00000636023.1:c.*55G>C	ENSP00000489969.1:n.*55G>C
ENST00000636070.1:c.*662G>C	ENSP00000490160.1:n.*662G>C
ENST00000636148.1:n.2935G>C
ENST00000636166.1:c.1119G>C	ENSP00000490106.1:p.Lys373Asn
ENST00000636188.1:c.61G>C
ENST00000636199.1:c.444G>C	ENSP00000490871.1:p.Lys148Asn
ENST00000636204.1:n.2164G>C
ENST00000636461.1:c.4416G>C
ENST00000636522.1:c.714G>C	ENSP00000489758.1:p.Lys238Asn
ENST00000636587.1:n.968G>C
ENST00000636594.1:n.404G>C
ENST00000636597.1:c.551-251G>C	ENSP00000490251.1:n.551-251G>C
ENST00000636725.1:n.1598G>C
ENST00000636803.1:n.1224G>C
ENST00000636865.1:c.726G>C	ENSP00000490601.1:p.Lys242Asn
ENST00000636871.1:n.1247G>C
ENST00000636978.1:n.994G>C
ENST00000636991.1:n.1327G>C
ENST00000637059.1:c.334G>C	ENSP00000490153.1:n.334G>C
ENST00000637088.1:n.5694G>C
ENST00000637114.1:n.982G>C
ENST00000637268.1:n.1783G>C
ENST00000637291.1:n.1616G>C
ENST00000637442.1:n.3103G>C
ENST00000637455.1:c.693G>C	ENSP00000489628.1:p.Lys231Asn
ENST00000637457.1:n.1743G>C
ENST00000637527.1:n.174G>C
ENST00000637682.1:c.878-251G>C	ENSP00000489856.1:n.878-251G>C
ENST00000637684.1:n.1092G>C
ENST00000637821.1:c.*1192G>C	ENSP00000490482.1:n.*1192G>C
ENST00000637914.1:n.2776G>C
ENST00000637982.1:n.1296G>C
ENST00000637994.1:n.1422G>C
ENST00000638014.1:c.3663G>C
ENST00000638063.1:c.801G>C	ENSP00000489760.1:p.Lys267Asn
ENST00000638079.1:c.*1394G>C	ENSP00000490120.1:n.*1394G>C
ENST00000638092.1:n.1402G>C
ENST00000638115.1:c.*2643G>C	ENSP00000490296.1:n.*2643G>C
ENST00000273588.7:c.882G>C	ENSP00000273588.3:p.Lys294Asn
ENST00000395338.6:c.882G>C	ENSP00000378747.2:p.Lys294Asn
ENST00000399379.6:c.*662G>C	ENSP00000399943.1:n.*662G>C
ENST00000427987.5:c.874G>C
ENST00000430521.1:c.714G>C	ENSP00000388068.1:p.Lys238Asn
ENST00000458307.6:c.750G>C	ENSP00000415619.2:p.Lys250Asn
ENST00000465925.5:n.2180G>C
ENST00000473163.1:n.251G>C
ENST00000476127.5:n.641G>C
ENST00000476226.5:n.947G>C
ENST00000495436.5:n.655-251G>C
ENST00000538581.5:c.714G>C	ENSP00000443200.1:p.Lys238Asn
NM_000481.3:c.882G>C , LRG_537t1:c.882G>C	NP_000472.2:p.Lys294Asn
NM_001164710.1:c.750G>C	NP_001158182.1:p.Lys250Asn
NM_001164711.1:c.714G>C	NP_001158183.1:p.Lys238Asn
NM_001164712.1:c.882G>C	NP_001158184.1:p.Lys294Asn
NR_028435.1:n.1096G>C
NM_000481.4:c.882G>C MANE Select	NP_000472.2:p.Lys294Asn
NM_001164710.2:c.750G>C	NP_001158182.1:p.Lys250Asn
NM_001164711.2:c.714G>C	NP_001158183.1:p.Lys238Asn
NM_001164712.2:c.882G>C	NP_001158184.1:p.Lys294Asn
NR_028435.2:n.891G>C