Canonical Allele Identifier: CA352791168

Gene: AMT

Linked Data

• MyVariant Identifiers: chr3:g.49459614A>G (hg19) ; chr3:g.49422181A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49422181A>G , CM000665.2:g.49422181A>G	GRCh38
NC_000003.11:g.49459614A>G , CM000665.1:g.49459614A>G	GRCh37
NC_000003.10:g.49434618A>G	NCBI36
NG_015986.1:g.5498T>C , LRG_537:g.5498T>C
NG_033046.1:g.12144T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273588.9:c.181T>C MANE Select	ENSP00000273588.3:p.Tyr61His
ENST00000395338.7:c.181T>C	ENSP00000378747.2:p.Tyr61His
ENST00000399379.7:c.60+180T>C	ENSP00000399943.2:n.60+180T>C
ENST00000427987.6:c.37T>C	ENSP00000403821.2:p.Tyr13His
ENST00000430521.2:c.91-132T>C	ENSP00000388068.2:n.91-132T>C
ENST00000462048.2:c.-101-132T>C	ENSP00000490465.1:n.-101-132T>C
ENST00000465925.6:n.200T>C
ENST00000473163.2:n.283T>C
ENST00000476127.6:n.58T>C
ENST00000476226.6:n.180T>C
ENST00000478594.6:n.186T>C
ENST00000480957.6:n.199T>C
ENST00000485108.6:n.311T>C
ENST00000487589.6:n.94T>C
ENST00000491800.3:n.292T>C
ENST00000493046.6:n.278T>C
ENST00000538581.6:c.37T>C	ENSP00000443200.2:p.Tyr13His
ENST00000635772.1:n.185T>C
ENST00000635808.1:c.181T>C	ENSP00000489620.1:p.Tyr61His
ENST00000635889.1:n.190T>C
ENST00000635936.1:n.173T>C
ENST00000636023.1:c.181T>C	ENSP00000489969.1:p.Tyr61His
ENST00000636070.1:c.91-132T>C	ENSP00000490160.1:n.91-132T>C
ENST00000636148.1:n.251T>C
ENST00000636166.1:c.496-609T>C	ENSP00000490106.1:n.496-609T>C
ENST00000636199.1:c.181T>C	ENSP00000490871.1:p.Tyr61His
ENST00000636204.1:n.1463T>C
ENST00000636461.1:c.3293T>C
ENST00000636522.1:c.90+180T>C	ENSP00000489758.1:n.90+180T>C
ENST00000636587.1:n.413T>C
ENST00000636597.1:c.181T>C	ENSP00000490251.1:p.Tyr61His
ENST00000636725.1:n.171T>C
ENST00000636803.1:n.171T>C
ENST00000636865.1:c.37T>C	ENSP00000490601.1:p.Tyr13His
ENST00000636871.1:n.124T>C
ENST00000636978.1:n.185T>C
ENST00000636991.1:n.204T>C
ENST00000637088.1:n.3736T>C
ENST00000637114.1:n.173T>C
ENST00000637268.1:n.186T>C
ENST00000637291.1:n.189T>C
ENST00000637442.1:n.1676T>C
ENST00000637457.1:n.208T>C
ENST00000637682.1:c.181T>C	ENSP00000489856.1:p.Tyr61His
ENST00000637684.1:n.283T>C
ENST00000637821.1:c.91-132T>C	ENSP00000490482.1:n.91-132T>C
ENST00000637914.1:n.200T>C
ENST00000637982.1:n.173T>C
ENST00000637994.1:n.191T>C
ENST00000638014.1:c.2962T>C
ENST00000638063.1:c.181T>C	ENSP00000489760.1:p.Tyr61His
ENST00000638079.1:c.*697T>C	ENSP00000490120.1:n.*697T>C
ENST00000638092.1:n.171T>C
ENST00000638115.1:c.*1942T>C	ENSP00000490296.1:n.*1942T>C
ENST00000273588.7:c.181T>C	ENSP00000273588.3:p.Tyr61His
ENST00000395338.6:c.181T>C	ENSP00000378747.2:p.Tyr61His
ENST00000399379.6:c.91-132T>C	ENSP00000399943.1:n.91-132T>C
ENST00000427987.5:c.173T>C
ENST00000430521.1:c.90+180T>C	ENSP00000388068.1:n.90+180T>C
ENST00000458307.6:c.181T>C	ENSP00000415619.2:p.Tyr61His
ENST00000462048.1:n.248-132T>C
ENST00000476226.5:n.246T>C
ENST00000478594.5:n.175T>C
ENST00000480957.5:n.189T>C
ENST00000485108.5:n.175T>C
ENST00000487589.5:n.283T>C
ENST00000493046.5:n.92-132T>C
ENST00000495436.5:n.271T>C
ENST00000498571.1:n.179T>C
ENST00000538581.5:c.90+180T>C	ENSP00000443200.1:n.90+180T>C
NM_000481.3:c.181T>C , LRG_537t1:c.181T>C	NP_000472.2:p.Tyr61His
NM_001164710.1:c.181T>C	NP_001158182.1:p.Tyr61His
NM_001164711.1:c.90+180T>C	NP_001158183.1:n.90+180T>C
NM_001164712.1:c.181T>C	NP_001158184.1:p.Tyr61His
NR_028435.1:n.395T>C
NM_000481.4:c.181T>C MANE Select	NP_000472.2:p.Tyr61His
NM_001164710.2:c.181T>C	NP_001158182.1:p.Tyr61His
NM_001164711.2:c.90+180T>C	NP_001158183.1:n.90+180T>C
NM_001164712.2:c.181T>C	NP_001158184.1:p.Tyr61His
NR_028435.2:n.190T>C