Canonical Allele Identifier: CA352791154

Gene: AMT

Linked Data

• MyVariant Identifiers: chr3:g.49459606G>T (hg19) ; chr3:g.49422173G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49422173G>T , CM000665.2:g.49422173G>T	GRCh38
NC_000003.11:g.49459606G>T , CM000665.1:g.49459606G>T	GRCh37
NC_000003.10:g.49434610G>T	NCBI36
NG_015986.1:g.5506C>A , LRG_537:g.5506C>A
NG_033046.1:g.12152C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273588.9:c.189C>A MANE Select	ENSP00000273588.3:p.Asp63Glu
ENST00000395338.7:c.189C>A	ENSP00000378747.2:p.Asp63Glu
ENST00000399379.7:c.60+188C>A	ENSP00000399943.2:n.60+188C>A
ENST00000427987.6:c.45C>A	ENSP00000403821.2:p.Asp15Glu
ENST00000430521.2:c.91-124C>A	ENSP00000388068.2:n.91-124C>A
ENST00000462048.2:c.-101-124C>A	ENSP00000490465.1:n.-101-124C>A
ENST00000465925.6:n.208C>A
ENST00000473163.2:n.291C>A
ENST00000476127.6:n.66C>A
ENST00000476226.6:n.188C>A
ENST00000478594.6:n.194C>A
ENST00000480957.6:n.207C>A
ENST00000485108.6:n.319C>A
ENST00000487589.6:n.102C>A
ENST00000491800.3:n.300C>A
ENST00000493046.6:n.286C>A
ENST00000538581.6:c.45C>A	ENSP00000443200.2:p.Asp15Glu
ENST00000635772.1:n.193C>A
ENST00000635808.1:c.189C>A	ENSP00000489620.1:p.Asp63Glu
ENST00000635889.1:n.198C>A
ENST00000635936.1:n.181C>A
ENST00000636023.1:c.189C>A	ENSP00000489969.1:p.Asp63Glu
ENST00000636070.1:c.91-124C>A	ENSP00000490160.1:n.91-124C>A
ENST00000636148.1:n.259C>A
ENST00000636166.1:c.496-601C>A	ENSP00000490106.1:n.496-601C>A
ENST00000636199.1:c.189C>A	ENSP00000490871.1:p.Asp63Glu
ENST00000636204.1:n.1471C>A
ENST00000636461.1:c.3301C>A
ENST00000636522.1:c.90+188C>A	ENSP00000489758.1:n.90+188C>A
ENST00000636587.1:n.421C>A
ENST00000636597.1:c.189C>A	ENSP00000490251.1:p.Asp63Glu
ENST00000636725.1:n.179C>A
ENST00000636803.1:n.179C>A
ENST00000636865.1:c.45C>A	ENSP00000490601.1:p.Asp15Glu
ENST00000636871.1:n.132C>A
ENST00000636978.1:n.193C>A
ENST00000636991.1:n.212C>A
ENST00000637088.1:n.3744C>A
ENST00000637114.1:n.181C>A
ENST00000637268.1:n.194C>A
ENST00000637291.1:n.197C>A
ENST00000637442.1:n.1684C>A
ENST00000637457.1:n.216C>A
ENST00000637682.1:c.189C>A	ENSP00000489856.1:p.Asp63Glu
ENST00000637684.1:n.291C>A
ENST00000637821.1:c.91-124C>A	ENSP00000490482.1:n.91-124C>A
ENST00000637914.1:n.208C>A
ENST00000637982.1:n.181C>A
ENST00000637994.1:n.199C>A
ENST00000638014.1:c.2970C>A
ENST00000638063.1:c.189C>A	ENSP00000489760.1:p.Asp63Glu
ENST00000638079.1:c.*705C>A	ENSP00000490120.1:n.*705C>A
ENST00000638092.1:n.179C>A
ENST00000638115.1:c.*1950C>A	ENSP00000490296.1:n.*1950C>A
ENST00000273588.7:c.189C>A	ENSP00000273588.3:p.Asp63Glu
ENST00000395338.6:c.189C>A	ENSP00000378747.2:p.Asp63Glu
ENST00000399379.6:c.91-124C>A	ENSP00000399943.1:n.91-124C>A
ENST00000427987.5:c.181C>A
ENST00000430521.1:c.90+188C>A	ENSP00000388068.1:n.90+188C>A
ENST00000458307.6:c.189C>A	ENSP00000415619.2:p.Asp63Glu
ENST00000462048.1:n.248-124C>A
ENST00000476226.5:n.254C>A
ENST00000478594.5:n.183C>A
ENST00000480957.5:n.197C>A
ENST00000485108.5:n.183C>A
ENST00000487589.5:n.291C>A
ENST00000493046.5:n.92-124C>A
ENST00000495436.5:n.279C>A
ENST00000498571.1:n.187C>A
ENST00000538581.5:c.90+188C>A	ENSP00000443200.1:n.90+188C>A
NM_000481.3:c.189C>A , LRG_537t1:c.189C>A	NP_000472.2:p.Asp63Glu
NM_001164710.1:c.189C>A	NP_001158182.1:p.Asp63Glu
NM_001164711.1:c.90+188C>A	NP_001158183.1:n.90+188C>A
NM_001164712.1:c.189C>A	NP_001158184.1:p.Asp63Glu
NR_028435.1:n.403C>A
NM_000481.4:c.189C>A MANE Select	NP_000472.2:p.Asp63Glu
NM_001164710.2:c.189C>A	NP_001158182.1:p.Asp63Glu
NM_001164711.2:c.90+188C>A	NP_001158183.1:n.90+188C>A
NM_001164712.2:c.189C>A	NP_001158184.1:p.Asp63Glu
NR_028435.2:n.198C>A