Canonical Allele Identifier: CA352791200

Gene: AMT

Linked Data

• MyVariant Identifiers: chr3:g.49459630C>A (hg19) ; chr3:g.49422197C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49422197C>A , CM000665.2:g.49422197C>A	GRCh38
NC_000003.11:g.49459630C>A , CM000665.1:g.49459630C>A	GRCh37
NC_000003.10:g.49434634C>A	NCBI36
NG_015986.1:g.5482G>T , LRG_537:g.5482G>T
NG_033046.1:g.12128G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273588.9:c.165G>T MANE Select	ENSP00000273588.3:p.Trp55Cys
ENST00000395338.7:c.165G>T	ENSP00000378747.2:p.Trp55Cys
ENST00000399379.7:c.60+164G>T	ENSP00000399943.2:n.60+164G>T
ENST00000427987.6:c.21G>T	ENSP00000403821.2:p.Trp7Cys
ENST00000430521.2:c.91-148G>T	ENSP00000388068.2:n.91-148G>T
ENST00000462048.2:c.-101-148G>T	ENSP00000490465.1:n.-101-148G>T
ENST00000465925.6:n.184G>T
ENST00000473163.2:n.267G>T
ENST00000476127.6:n.42G>T
ENST00000476226.6:n.164G>T
ENST00000478594.6:n.170G>T
ENST00000480957.6:n.183G>T
ENST00000485108.6:n.295G>T
ENST00000487589.6:n.78G>T
ENST00000491800.3:n.276G>T
ENST00000493046.6:n.262G>T
ENST00000538581.6:c.21G>T	ENSP00000443200.2:p.Trp7Cys
ENST00000635772.1:n.169G>T
ENST00000635808.1:c.165G>T	ENSP00000489620.1:p.Trp55Cys
ENST00000635889.1:n.174G>T
ENST00000635936.1:n.157G>T
ENST00000636023.1:c.165G>T	ENSP00000489969.1:p.Trp55Cys
ENST00000636070.1:c.91-148G>T	ENSP00000490160.1:n.91-148G>T
ENST00000636148.1:n.235G>T
ENST00000636166.1:c.496-625G>T	ENSP00000490106.1:n.496-625G>T
ENST00000636199.1:c.165G>T	ENSP00000490871.1:p.Trp55Cys
ENST00000636204.1:n.1447G>T
ENST00000636461.1:c.3277G>T
ENST00000636522.1:c.90+164G>T	ENSP00000489758.1:n.90+164G>T
ENST00000636587.1:n.397G>T
ENST00000636597.1:c.165G>T	ENSP00000490251.1:p.Trp55Cys
ENST00000636725.1:n.155G>T
ENST00000636803.1:n.155G>T
ENST00000636865.1:c.21G>T	ENSP00000490601.1:p.Trp7Cys
ENST00000636871.1:n.108G>T
ENST00000636978.1:n.169G>T
ENST00000636991.1:n.188G>T
ENST00000637088.1:n.3720G>T
ENST00000637114.1:n.157G>T
ENST00000637268.1:n.170G>T
ENST00000637291.1:n.173G>T
ENST00000637442.1:n.1660G>T
ENST00000637457.1:n.192G>T
ENST00000637682.1:c.165G>T	ENSP00000489856.1:p.Trp55Cys
ENST00000637684.1:n.267G>T
ENST00000637821.1:c.91-148G>T	ENSP00000490482.1:n.91-148G>T
ENST00000637914.1:n.184G>T
ENST00000637982.1:n.157G>T
ENST00000637994.1:n.175G>T
ENST00000638014.1:c.2946G>T
ENST00000638063.1:c.165G>T	ENSP00000489760.1:p.Trp55Cys
ENST00000638079.1:c.*681G>T	ENSP00000490120.1:n.*681G>T
ENST00000638092.1:n.155G>T
ENST00000638115.1:c.*1926G>T	ENSP00000490296.1:n.*1926G>T
ENST00000273588.7:c.165G>T	ENSP00000273588.3:p.Trp55Cys
ENST00000395338.6:c.165G>T	ENSP00000378747.2:p.Trp55Cys
ENST00000399379.6:c.91-148G>T	ENSP00000399943.1:n.91-148G>T
ENST00000427987.5:c.157G>T
ENST00000430521.1:c.90+164G>T	ENSP00000388068.1:n.90+164G>T
ENST00000458307.6:c.165G>T	ENSP00000415619.2:p.Trp55Cys
ENST00000462048.1:n.248-148G>T
ENST00000476226.5:n.230G>T
ENST00000478594.5:n.159G>T
ENST00000480957.5:n.173G>T
ENST00000485108.5:n.159G>T
ENST00000487589.5:n.267G>T
ENST00000493046.5:n.92-148G>T
ENST00000495436.5:n.255G>T
ENST00000498571.1:n.163G>T
ENST00000538581.5:c.90+164G>T	ENSP00000443200.1:n.90+164G>T
NM_000481.3:c.165G>T , LRG_537t1:c.165G>T	NP_000472.2:p.Trp55Cys
NM_001164710.1:c.165G>T	NP_001158182.1:p.Trp55Cys
NM_001164711.1:c.90+164G>T	NP_001158183.1:n.90+164G>T
NM_001164712.1:c.165G>T	NP_001158184.1:p.Trp55Cys
NR_028435.1:n.379G>T
NM_000481.4:c.165G>T MANE Select	NP_000472.2:p.Trp55Cys
NM_001164710.2:c.165G>T	NP_001158182.1:p.Trp55Cys
NM_001164711.2:c.90+164G>T	NP_001158183.1:n.90+164G>T
NM_001164712.2:c.165G>T	NP_001158184.1:p.Trp55Cys
NR_028435.2:n.174G>T