Canonical Allele Identifier: CA1363482128

Gene: AMT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49422143G= , CM000665.2:g.49422143G=	GRCh38
NC_000003.11:g.49459576G= , CM000665.1:g.49459576G=	GRCh37
NC_000003.10:g.49434580G=	NCBI36
NG_015986.1:g.5536C= , LRG_537:g.5536C=
NG_033046.1:g.12182C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273588.9:c.219C= MANE Select	ENSP00000273588.3:p.Arg73=
ENST00000395338.7:c.219C=	ENSP00000378747.2:p.Arg73=
ENST00000399379.7:c.60+218C=	ENSP00000399943.2:n.60+218C=
ENST00000427987.6:c.75C=	ENSP00000403821.2:p.Arg25=
ENST00000430521.2:c.91-94C=	ENSP00000388068.2:n.91-94C=
ENST00000462048.2:c.-101-94C=	ENSP00000490465.1:n.-101-94C=
ENST00000465925.6:n.238C=
ENST00000473163.2:n.321C=
ENST00000476127.6:n.96C=
ENST00000476226.6:n.218C=
ENST00000478594.6:n.224C=
ENST00000480957.6:n.237C=
ENST00000485108.6:n.349C=
ENST00000487589.6:n.132C=
ENST00000491800.3:n.330C=
ENST00000493046.6:n.316C=
ENST00000538581.6:c.75C=	ENSP00000443200.2:p.Arg25=
ENST00000635772.1:n.223C=
ENST00000635808.1:c.219C=	ENSP00000489620.1:p.Arg73=
ENST00000635889.1:n.228C=
ENST00000635936.1:n.211C=
ENST00000636023.1:c.219C=	ENSP00000489969.1:p.Arg73=
ENST00000636070.1:c.91-94C=	ENSP00000490160.1:n.91-94C=
ENST00000636148.1:n.289C=
ENST00000636166.1:c.496-571C=	ENSP00000490106.1:n.496-571C=
ENST00000636199.1:c.219C=	ENSP00000490871.1:p.Arg73=
ENST00000636204.1:n.1501C=
ENST00000636461.1:c.3331C=
ENST00000636522.1:c.90+218C=	ENSP00000489758.1:n.90+218C=
ENST00000636587.1:n.451C=
ENST00000636597.1:c.219C=	ENSP00000490251.1:p.Arg73=
ENST00000636725.1:n.209C=
ENST00000636803.1:n.209C=
ENST00000636865.1:c.75C=	ENSP00000490601.1:p.Arg25=
ENST00000636871.1:n.162C=
ENST00000636978.1:n.223C=
ENST00000636991.1:n.242C=
ENST00000637059.1:c.30C=	ENSP00000490153.1:p.Arg10=
ENST00000637088.1:n.3774C=
ENST00000637114.1:n.211C=
ENST00000637268.1:n.224C=
ENST00000637291.1:n.227C=
ENST00000637442.1:n.1714C=
ENST00000637455.1:c.30C=	ENSP00000489628.1:p.Arg10=
ENST00000637457.1:n.246C=
ENST00000637682.1:c.219C=	ENSP00000489856.1:p.Arg73=
ENST00000637684.1:n.321C=
ENST00000637821.1:c.91-94C=	ENSP00000490482.1:n.91-94C=
ENST00000637914.1:n.238C=
ENST00000637982.1:n.211C=
ENST00000637994.1:n.229C=
ENST00000638014.1:c.3000C=
ENST00000638063.1:c.219C=	ENSP00000489760.1:p.Arg73=
ENST00000638079.1:c.*735C=	ENSP00000490120.1:n.*735C=
ENST00000638092.1:n.209C=
ENST00000638115.1:c.*1980C=	ENSP00000490296.1:n.*1980C=
ENST00000273588.7:c.219C=	ENSP00000273588.3:p.Arg73=
ENST00000395338.6:c.219C=	ENSP00000378747.2:p.Arg73=
ENST00000399379.6:c.91-94C=	ENSP00000399943.1:n.91-94C=
ENST00000427987.5:c.211C=
ENST00000430521.1:c.90+218C=	ENSP00000388068.1:n.90+218C=
ENST00000458307.6:c.219C=	ENSP00000415619.2:p.Arg73=
ENST00000462048.1:n.248-94C=
ENST00000476226.5:n.284C=
ENST00000478594.5:n.213C=
ENST00000480957.5:n.227C=
ENST00000485108.5:n.213C=
ENST00000487589.5:n.321C=
ENST00000493046.5:n.92-94C=
ENST00000495436.5:n.309C=
ENST00000498571.1:n.217C=
ENST00000538581.5:c.90+218C=	ENSP00000443200.1:n.90+218C=
NM_000481.3:c.219C= , LRG_537t1:c.219C=	NP_000472.2:p.Arg73=
NM_001164710.1:c.219C=	NP_001158182.1:p.Arg73=
NM_001164711.1:c.90+218C=	NP_001158183.1:n.90+218C=
NM_001164712.1:c.219C=	NP_001158184.1:p.Arg73=
NR_028435.1:n.433C=
NM_000481.4:c.219C= MANE Select	NP_000472.2:p.Arg73=
NM_001164710.2:c.219C=	NP_001158182.1:p.Arg73=
NM_001164711.2:c.90+218C=	NP_001158183.1:n.90+218C=
NM_001164712.2:c.219C=	NP_001158184.1:p.Arg73=
NR_028435.2:n.228C=