Canonical Allele Identifier: CA256146

Gene: AMT

Linked Data

• ClinVar Variation Id: 11975
• ClinVar RCV Id: RCV000012755 ; RCV000622444 ; RCV003230354
• dbSNP Id: rs121964982
• ExAC: 3:49459656 C / T
• gnomAD v2: 3-49459656-C-T
• gnomAD v3: 3-49422223-C-T
• gnomAD v4: 3-49422223-C-T
• MyVariant Identifiers: chr3:g.49459656C>T (hg19) ; chr3:g.49422223C>T (hg38)
• PubMed: PMID:8005589 ; PMID:9600239 ; PMID:16450403 ; PMID:23352163 ; PMID:24838951 ; PMID:25231368 ; PMID:26179960 ; PMID:26371980

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49422223C>T , CM000665.2:g.49422223C>T	GRCh38
NC_000003.11:g.49459656C>T , CM000665.1:g.49459656C>T	GRCh37
NC_000003.10:g.49434660C>T	NCBI36
NG_015986.1:g.5456G>A , LRG_537:g.5456G>A
NG_033046.1:g.12102G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273588.9:c.139G>A MANE Select	ENSP00000273588.3:p.Gly47Arg
ENST00000395338.7:c.139G>A	ENSP00000378747.2:p.Gly47Arg
ENST00000399379.7:c.60+138G>A	ENSP00000399943.2:n.60+138G>A
ENST00000427987.6:c.-6G>A	ENSP00000403821.2:n.-6G>A
ENST00000430521.2:c.90+138G>A	ENSP00000388068.2:n.90+138G>A
ENST00000462048.2:c.-101-174G>A	ENSP00000490465.1:n.-101-174G>A
ENST00000465925.6:n.158G>A
ENST00000473163.2:n.241G>A
ENST00000476127.6:n.16G>A
ENST00000476226.6:n.138G>A
ENST00000478594.6:n.144G>A
ENST00000480957.6:n.157G>A
ENST00000485108.6:n.269G>A
ENST00000487589.6:n.52G>A
ENST00000491800.3:n.250G>A
ENST00000493046.6:n.236G>A
ENST00000538581.6:c.-6G>A	ENSP00000443200.2:n.-6G>A
ENST00000635772.1:n.143G>A
ENST00000635808.1:c.139G>A	ENSP00000489620.1:p.Gly47Arg
ENST00000635889.1:n.148G>A
ENST00000635936.1:n.131G>A
ENST00000636023.1:c.139G>A	ENSP00000489969.1:p.Gly47Arg
ENST00000636070.1:c.90+138G>A	ENSP00000490160.1:n.90+138G>A
ENST00000636148.1:n.209G>A
ENST00000636166.1:c.496-651G>A	ENSP00000490106.1:n.496-651G>A
ENST00000636199.1:c.139G>A	ENSP00000490871.1:p.Gly47Arg
ENST00000636204.1:n.1421G>A
ENST00000636461.1:c.3251G>A
ENST00000636522.1:c.90+138G>A	ENSP00000489758.1:n.90+138G>A
ENST00000636587.1:n.371G>A
ENST00000636597.1:c.139G>A	ENSP00000490251.1:p.Gly47Arg
ENST00000636725.1:n.129G>A
ENST00000636803.1:n.129G>A
ENST00000636865.1:c.-6G>A	ENSP00000490601.1:n.-6G>A
ENST00000636871.1:n.82G>A
ENST00000636978.1:n.143G>A
ENST00000636991.1:n.162G>A
ENST00000637088.1:n.3694G>A
ENST00000637114.1:n.131G>A
ENST00000637268.1:n.144G>A
ENST00000637291.1:n.147G>A
ENST00000637442.1:n.1634G>A
ENST00000637457.1:n.166G>A
ENST00000637682.1:c.139G>A	ENSP00000489856.1:p.Gly47Arg
ENST00000637684.1:n.241G>A
ENST00000637821.1:c.90+138G>A	ENSP00000490482.1:n.90+138G>A
ENST00000637914.1:n.158G>A
ENST00000637982.1:n.131G>A
ENST00000637994.1:n.149G>A
ENST00000638014.1:c.2920G>A
ENST00000638063.1:c.139G>A	ENSP00000489760.1:p.Gly47Arg
ENST00000638079.1:c.*655G>A	ENSP00000490120.1:n.*655G>A
ENST00000638092.1:n.129G>A
ENST00000638115.1:c.*1900G>A	ENSP00000490296.1:n.*1900G>A
ENST00000273588.7:c.139G>A	ENSP00000273588.3:p.Gly47Arg
ENST00000395338.6:c.139G>A	ENSP00000378747.2:p.Gly47Arg
ENST00000399379.6:c.90+138G>A	ENSP00000399943.1:n.90+138G>A
ENST00000427987.5:c.131G>A
ENST00000430521.1:c.90+138G>A	ENSP00000388068.1:n.90+138G>A
ENST00000458307.6:c.139G>A	ENSP00000415619.2:p.Gly47Arg
ENST00000462048.1:n.248-174G>A
ENST00000476226.5:n.204G>A
ENST00000478594.5:n.133G>A
ENST00000480957.5:n.147G>A
ENST00000485108.5:n.133G>A
ENST00000487589.5:n.241G>A
ENST00000493046.5:n.91+138G>A
ENST00000495436.5:n.229G>A
ENST00000498571.1:n.137G>A
ENST00000538581.5:c.90+138G>A	ENSP00000443200.1:n.90+138G>A
NM_000481.3:c.139G>A , LRG_537t1:c.139G>A	NP_000472.2:p.Gly47Arg
NM_001164710.1:c.139G>A	NP_001158182.1:p.Gly47Arg
NM_001164711.1:c.90+138G>A	NP_001158183.1:n.90+138G>A
NM_001164712.1:c.139G>A	NP_001158184.1:p.Gly47Arg
NR_028435.1:n.353G>A
NM_000481.4:c.139G>A MANE Select	NP_000472.2:p.Gly47Arg
NM_001164710.2:c.139G>A	NP_001158182.1:p.Gly47Arg
NM_001164711.2:c.90+138G>A	NP_001158183.1:n.90+138G>A
NM_001164712.2:c.139G>A	NP_001158184.1:p.Gly47Arg
NR_028435.2:n.148G>A