Canonical Allele Identifier: CA352791284

Gene: AMT

Linked Data

• gnomAD v4: 3-49422238-G-A
• MyVariant Identifiers: chr3:g.49459671G>A (hg19) ; chr3:g.49422238G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49422238G>A , CM000665.2:g.49422238G>A	GRCh38
NC_000003.11:g.49459671G>A , CM000665.1:g.49459671G>A	GRCh37
NC_000003.10:g.49434675G>A	NCBI36
NG_015986.1:g.5441C>T , LRG_537:g.5441C>T
NG_033046.1:g.12087C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273588.9:c.124C>T MANE Select	ENSP00000273588.3:p.His42Tyr
ENST00000395338.7:c.124C>T	ENSP00000378747.2:p.His42Tyr
ENST00000399379.7:c.60+123C>T	ENSP00000399943.2:n.60+123C>T
ENST00000427987.6:c.-21C>T	ENSP00000403821.2:n.-21C>T
ENST00000430521.2:c.90+123C>T	ENSP00000388068.2:n.90+123C>T
ENST00000462048.2:c.-101-189C>T	ENSP00000490465.1:n.-101-189C>T
ENST00000465925.6:n.143C>T
ENST00000473163.2:n.226C>T
ENST00000476127.6:n.1C>T
ENST00000476226.6:n.123C>T
ENST00000478594.6:n.129C>T
ENST00000480957.6:n.142C>T
ENST00000485108.6:n.254C>T
ENST00000487589.6:n.37C>T
ENST00000491800.3:n.235C>T
ENST00000493046.6:n.221C>T
ENST00000538581.6:c.-21C>T	ENSP00000443200.2:n.-21C>T
ENST00000635772.1:n.128C>T
ENST00000635808.1:c.124C>T	ENSP00000489620.1:p.His42Tyr
ENST00000635889.1:n.133C>T
ENST00000635936.1:n.116C>T
ENST00000636023.1:c.124C>T	ENSP00000489969.1:p.His42Tyr
ENST00000636070.1:c.90+123C>T	ENSP00000490160.1:n.90+123C>T
ENST00000636148.1:n.194C>T
ENST00000636166.1:c.496-666C>T	ENSP00000490106.1:n.496-666C>T
ENST00000636199.1:c.124C>T	ENSP00000490871.1:p.His42Tyr
ENST00000636204.1:n.1406C>T
ENST00000636461.1:c.3236C>T
ENST00000636522.1:c.90+123C>T	ENSP00000489758.1:n.90+123C>T
ENST00000636587.1:n.356C>T
ENST00000636597.1:c.124C>T	ENSP00000490251.1:p.His42Tyr
ENST00000636725.1:n.114C>T
ENST00000636803.1:n.114C>T
ENST00000636865.1:c.-21C>T	ENSP00000490601.1:n.-21C>T
ENST00000636871.1:n.67C>T
ENST00000636978.1:n.128C>T
ENST00000636991.1:n.147C>T
ENST00000637088.1:n.3679C>T
ENST00000637114.1:n.116C>T
ENST00000637268.1:n.129C>T
ENST00000637291.1:n.132C>T
ENST00000637442.1:n.1619C>T
ENST00000637457.1:n.151C>T
ENST00000637682.1:c.124C>T	ENSP00000489856.1:p.His42Tyr
ENST00000637684.1:n.226C>T
ENST00000637821.1:c.90+123C>T	ENSP00000490482.1:n.90+123C>T
ENST00000637914.1:n.143C>T
ENST00000637982.1:n.116C>T
ENST00000637994.1:n.134C>T
ENST00000638014.1:c.2905C>T
ENST00000638063.1:c.124C>T	ENSP00000489760.1:p.His42Tyr
ENST00000638079.1:c.*640C>T	ENSP00000490120.1:n.*640C>T
ENST00000638092.1:n.114C>T
ENST00000638115.1:c.*1885C>T	ENSP00000490296.1:n.*1885C>T
ENST00000273588.7:c.124C>T	ENSP00000273588.3:p.His42Tyr
ENST00000395338.6:c.124C>T	ENSP00000378747.2:p.His42Tyr
ENST00000399379.6:c.90+123C>T	ENSP00000399943.1:n.90+123C>T
ENST00000427987.5:c.116C>T
ENST00000430521.1:c.90+123C>T	ENSP00000388068.1:n.90+123C>T
ENST00000458307.6:c.124C>T	ENSP00000415619.2:p.His42Tyr
ENST00000462048.1:n.248-189C>T
ENST00000476226.5:n.189C>T
ENST00000478594.5:n.118C>T
ENST00000480957.5:n.132C>T
ENST00000485108.5:n.118C>T
ENST00000487589.5:n.226C>T
ENST00000493046.5:n.91+123C>T
ENST00000495436.5:n.214C>T
ENST00000498571.1:n.122C>T
ENST00000538581.5:c.90+123C>T	ENSP00000443200.1:n.90+123C>T
NM_000481.3:c.124C>T , LRG_537t1:c.124C>T	NP_000472.2:p.His42Tyr
NM_001164710.1:c.124C>T	NP_001158182.1:p.His42Tyr
NM_001164711.1:c.90+123C>T	NP_001158183.1:n.90+123C>T
NM_001164712.1:c.124C>T	NP_001158184.1:p.His42Tyr
NR_028435.1:n.338C>T
NM_000481.4:c.124C>T MANE Select	NP_000472.2:p.His42Tyr
NM_001164710.2:c.124C>T	NP_001158182.1:p.His42Tyr
NM_001164711.2:c.90+123C>T	NP_001158183.1:n.90+123C>T
NM_001164712.2:c.124C>T	NP_001158184.1:p.His42Tyr
NR_028435.2:n.133C>T