Canonical Allele Identifier: CA1363482007

Gene: AMT

Linked Data

• dbSNP Id: rs1406428915

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49422072G>C , CM000665.2:g.49422072G>C	GRCh38
NC_000003.11:g.49459505G>C , CM000665.1:g.49459505G>C	GRCh37
NC_000003.10:g.49434509G>C	NCBI36
NG_015986.1:g.5607C>G , LRG_537:g.5607C>G
NG_033046.1:g.12253C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273588.9:c.258+32C>G MANE Select	ENSP00000273588.3:n.258+32C>G
ENST00000395338.7:c.258+32C>G	ENSP00000378747.2:n.258+32C>G
ENST00000399379.7:c.60+289C>G	ENSP00000399943.2:n.60+289C>G
ENST00000427987.6:c.114+32C>G	ENSP00000403821.2:n.114+32C>G
ENST00000430521.2:c.91-23C>G	ENSP00000388068.2:n.91-23C>G
ENST00000462048.2:c.-101-23C>G	ENSP00000490465.1:n.-101-23C>G
ENST00000465925.6:n.277+32C>G
ENST00000473163.2:n.392C>G
ENST00000476127.6:n.135+32C>G
ENST00000476226.6:n.257+32C>G
ENST00000478594.6:n.263+32C>G
ENST00000480957.6:n.276+32C>G
ENST00000485108.6:n.388+32C>G
ENST00000487589.6:n.171+32C>G
ENST00000491800.3:n.401C>G
ENST00000493046.6:n.387C>G
ENST00000538581.6:c.114+32C>G	ENSP00000443200.2:n.114+32C>G
ENST00000635772.1:n.262+32C>G
ENST00000635808.1:c.258+32C>G	ENSP00000489620.1:n.258+32C>G
ENST00000635889.1:n.267+32C>G
ENST00000635936.1:n.250+32C>G
ENST00000636023.1:c.258+32C>G	ENSP00000489969.1:n.258+32C>G
ENST00000636070.1:c.91-23C>G	ENSP00000490160.1:n.91-23C>G
ENST00000636148.1:n.328+32C>G
ENST00000636166.1:c.496-500C>G	ENSP00000490106.1:n.496-500C>G
ENST00000636199.1:c.258+32C>G	ENSP00000490871.1:n.258+32C>G
ENST00000636204.1:n.1540+32C>G
ENST00000636461.1:c.3370+32C>G
ENST00000636522.1:c.90+289C>G	ENSP00000489758.1:n.90+289C>G
ENST00000636587.1:n.490+32C>G
ENST00000636597.1:c.258+32C>G	ENSP00000490251.1:n.258+32C>G
ENST00000636725.1:n.248+32C>G
ENST00000636803.1:n.248+32C>G
ENST00000636865.1:c.114+32C>G	ENSP00000490601.1:n.114+32C>G
ENST00000636871.1:n.201+32C>G
ENST00000636978.1:n.262+32C>G
ENST00000636991.1:n.281+32C>G
ENST00000637059.1:c.69+32C>G	ENSP00000490153.1:n.69+32C>G
ENST00000637088.1:n.3845C>G
ENST00000637114.1:n.250+32C>G
ENST00000637268.1:n.263+32C>G
ENST00000637291.1:n.266+32C>G
ENST00000637442.1:n.1753+32C>G
ENST00000637455.1:c.69+32C>G	ENSP00000489628.1:n.69+32C>G
ENST00000637457.1:n.285+32C>G
ENST00000637682.1:c.258+32C>G	ENSP00000489856.1:n.258+32C>G
ENST00000637684.1:n.360+32C>G
ENST00000637821.1:c.91-23C>G	ENSP00000490482.1:n.91-23C>G
ENST00000637914.1:n.277+32C>G
ENST00000637982.1:n.250+32C>G
ENST00000637994.1:n.268+32C>G
ENST00000638014.1:c.3039+32C>G
ENST00000638063.1:c.258+32C>G	ENSP00000489760.1:n.258+32C>G
ENST00000638079.1:c.*774+32C>G	ENSP00000490120.1:n.*774+32C>G
ENST00000638092.1:n.248+32C>G
ENST00000638115.1:c.*2019+32C>G	ENSP00000490296.1:n.*2019+32C>G
ENST00000273588.7:c.258+32C>G	ENSP00000273588.3:n.258+32C>G
ENST00000395338.6:c.258+32C>G	ENSP00000378747.2:n.258+32C>G
ENST00000399379.6:c.91-23C>G	ENSP00000399943.1:n.91-23C>G
ENST00000427987.5:c.250+32C>G
ENST00000430521.1:c.90+289C>G	ENSP00000388068.1:n.90+289C>G
ENST00000458307.6:c.258+32C>G	ENSP00000415619.2:n.258+32C>G
ENST00000462048.1:n.248-23C>G
ENST00000476226.5:n.323+32C>G
ENST00000478594.5:n.252+32C>G
ENST00000480957.5:n.266+32C>G
ENST00000485108.5:n.252+32C>G
ENST00000487589.5:n.360+32C>G
ENST00000493046.5:n.92-23C>G
ENST00000495436.5:n.348+32C>G
ENST00000498571.1:n.288C>G
ENST00000538581.5:c.90+289C>G	ENSP00000443200.1:n.90+289C>G
NM_000481.3:c.258+32C>G , LRG_537t1:c.258+32C>G	NP_000472.2:n.258+32C>G
NM_001164710.1:c.258+32C>G	NP_001158182.1:n.258+32C>G
NM_001164711.1:c.90+289C>G	NP_001158183.1:n.90+289C>G
NM_001164712.1:c.258+32C>G	NP_001158184.1:n.258+32C>G
NR_028435.1:n.472+32C>G
NM_000481.4:c.258+32C>G MANE Select	NP_000472.2:n.258+32C>G
NM_001164710.2:c.258+32C>G	NP_001158182.1:n.258+32C>G
NM_001164711.2:c.90+289C>G	NP_001158183.1:n.90+289C>G
NM_001164712.2:c.258+32C>G	NP_001158184.1:n.258+32C>G
NR_028435.2:n.267+32C>G