Canonical Allele Identifier: CA433648002

Gene: AMT

Linked Data

• MyVariant Identifiers: chr3:g.49459579T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49422146T>A , CM000665.2:g.49422146T>A	GRCh38
NC_000003.11:g.49459579T>A , CM000665.1:g.49459579T>A	GRCh37
NC_000003.10:g.49434583T>A	NCBI36
NG_015986.1:g.5533A>T , LRG_537:g.5533A>T
NG_033046.1:g.12179A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273588.9:c.216A>T MANE Select	ENSP00000273588.3:p.Thr72=
ENST00000395338.7:c.216A>T	ENSP00000378747.2:p.Thr72=
ENST00000399379.7:c.60+215A>T	ENSP00000399943.2:n.60+215A>T
ENST00000427987.6:c.72A>T	ENSP00000403821.2:p.Thr24=
ENST00000430521.2:c.91-97A>T	ENSP00000388068.2:n.91-97A>T
ENST00000462048.2:c.-101-97A>T	ENSP00000490465.1:n.-101-97A>T
ENST00000465925.6:n.235A>T
ENST00000473163.2:n.318A>T
ENST00000476127.6:n.93A>T
ENST00000476226.6:n.215A>T
ENST00000478594.6:n.221A>T
ENST00000480957.6:n.234A>T
ENST00000485108.6:n.346A>T
ENST00000487589.6:n.129A>T
ENST00000491800.3:n.327A>T
ENST00000493046.6:n.313A>T
ENST00000538581.6:c.72A>T	ENSP00000443200.2:p.Thr24=
ENST00000635772.1:n.220A>T
ENST00000635808.1:c.216A>T	ENSP00000489620.1:p.Thr72=
ENST00000635889.1:n.225A>T
ENST00000635936.1:n.208A>T
ENST00000636023.1:c.216A>T	ENSP00000489969.1:p.Thr72=
ENST00000636070.1:c.91-97A>T	ENSP00000490160.1:n.91-97A>T
ENST00000636148.1:n.286A>T
ENST00000636166.1:c.496-574A>T	ENSP00000490106.1:n.496-574A>T
ENST00000636199.1:c.216A>T	ENSP00000490871.1:p.Thr72=
ENST00000636204.1:n.1498A>T
ENST00000636461.1:c.3328A>T
ENST00000636522.1:c.90+215A>T	ENSP00000489758.1:n.90+215A>T
ENST00000636587.1:n.448A>T
ENST00000636597.1:c.216A>T	ENSP00000490251.1:p.Thr72=
ENST00000636725.1:n.206A>T
ENST00000636803.1:n.206A>T
ENST00000636865.1:c.72A>T	ENSP00000490601.1:p.Thr24=
ENST00000636871.1:n.159A>T
ENST00000636978.1:n.220A>T
ENST00000636991.1:n.239A>T
ENST00000637059.1:c.27A>T	ENSP00000490153.1:p.Thr9=
ENST00000637088.1:n.3771A>T
ENST00000637114.1:n.208A>T
ENST00000637268.1:n.221A>T
ENST00000637291.1:n.224A>T
ENST00000637442.1:n.1711A>T
ENST00000637455.1:c.27A>T	ENSP00000489628.1:p.Thr9=
ENST00000637457.1:n.243A>T
ENST00000637682.1:c.216A>T	ENSP00000489856.1:p.Thr72=
ENST00000637684.1:n.318A>T
ENST00000637821.1:c.91-97A>T	ENSP00000490482.1:n.91-97A>T
ENST00000637914.1:n.235A>T
ENST00000637982.1:n.208A>T
ENST00000637994.1:n.226A>T
ENST00000638014.1:c.2997A>T
ENST00000638063.1:c.216A>T	ENSP00000489760.1:p.Thr72=
ENST00000638079.1:c.*732A>T	ENSP00000490120.1:n.*732A>T
ENST00000638092.1:n.206A>T
ENST00000638115.1:c.*1977A>T	ENSP00000490296.1:n.*1977A>T
ENST00000273588.7:c.216A>T	ENSP00000273588.3:p.Thr72=
ENST00000395338.6:c.216A>T	ENSP00000378747.2:p.Thr72=
ENST00000399379.6:c.91-97A>T	ENSP00000399943.1:n.91-97A>T
ENST00000427987.5:c.208A>T
ENST00000430521.1:c.90+215A>T	ENSP00000388068.1:n.90+215A>T
ENST00000458307.6:c.216A>T	ENSP00000415619.2:p.Thr72=
ENST00000462048.1:n.248-97A>T
ENST00000476226.5:n.281A>T
ENST00000478594.5:n.210A>T
ENST00000480957.5:n.224A>T
ENST00000485108.5:n.210A>T
ENST00000487589.5:n.318A>T
ENST00000493046.5:n.92-97A>T
ENST00000495436.5:n.306A>T
ENST00000498571.1:n.214A>T
ENST00000538581.5:c.90+215A>T	ENSP00000443200.1:n.90+215A>T
NM_000481.3:c.216A>T , LRG_537t1:c.216A>T	NP_000472.2:p.Thr72=
NM_001164710.1:c.216A>T	NP_001158182.1:p.Thr72=
NM_001164711.1:c.90+215A>T	NP_001158183.1:n.90+215A>T
NM_001164712.1:c.216A>T	NP_001158184.1:p.Thr72=
NR_028435.1:n.430A>T
NM_000481.4:c.216A>T MANE Select	NP_000472.2:p.Thr72=
NM_001164710.2:c.216A>T	NP_001158182.1:p.Thr72=
NM_001164711.2:c.90+215A>T	NP_001158183.1:n.90+215A>T
NM_001164712.2:c.216A>T	NP_001158184.1:p.Thr72=
NR_028435.2:n.225A>T