Canonical Allele Identifier: CA341155

Gene: AMT

Linked Data

• ClinVar Variation Id: 11976
• ClinVar RCV Id: RCV000012756 ; RCV003230355
• dbSNP Id: rs121964983
• MyVariant Identifiers: chr3:g.49459670T>C (hg19) ; chr3:g.49422237T>C (hg38)
• PubMed: PMID:9600239 ; PMID:20301531

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49422237T>C , CM000665.2:g.49422237T>C	GRCh38
NC_000003.11:g.49459670T>C , CM000665.1:g.49459670T>C	GRCh37
NC_000003.10:g.49434674T>C	NCBI36
NG_015986.1:g.5442A>G , LRG_537:g.5442A>G
NG_033046.1:g.12088A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273588.9:c.125A>G MANE Select	ENSP00000273588.3:p.His42Arg
ENST00000395338.7:c.125A>G	ENSP00000378747.2:p.His42Arg
ENST00000399379.7:c.60+124A>G	ENSP00000399943.2:n.60+124A>G
ENST00000427987.6:c.-20A>G	ENSP00000403821.2:n.-20A>G
ENST00000430521.2:c.90+124A>G	ENSP00000388068.2:n.90+124A>G
ENST00000462048.2:c.-101-188A>G	ENSP00000490465.1:n.-101-188A>G
ENST00000465925.6:n.144A>G
ENST00000473163.2:n.227A>G
ENST00000476127.6:n.2A>G
ENST00000476226.6:n.124A>G
ENST00000478594.6:n.130A>G
ENST00000480957.6:n.143A>G
ENST00000485108.6:n.255A>G
ENST00000487589.6:n.38A>G
ENST00000491800.3:n.236A>G
ENST00000493046.6:n.222A>G
ENST00000538581.6:c.-20A>G	ENSP00000443200.2:n.-20A>G
ENST00000635772.1:n.129A>G
ENST00000635808.1:c.125A>G	ENSP00000489620.1:p.His42Arg
ENST00000635889.1:n.134A>G
ENST00000635936.1:n.117A>G
ENST00000636023.1:c.125A>G	ENSP00000489969.1:p.His42Arg
ENST00000636070.1:c.90+124A>G	ENSP00000490160.1:n.90+124A>G
ENST00000636148.1:n.195A>G
ENST00000636166.1:c.496-665A>G	ENSP00000490106.1:n.496-665A>G
ENST00000636199.1:c.125A>G	ENSP00000490871.1:p.His42Arg
ENST00000636204.1:n.1407A>G
ENST00000636461.1:c.3237A>G
ENST00000636522.1:c.90+124A>G	ENSP00000489758.1:n.90+124A>G
ENST00000636587.1:n.357A>G
ENST00000636597.1:c.125A>G	ENSP00000490251.1:p.His42Arg
ENST00000636725.1:n.115A>G
ENST00000636803.1:n.115A>G
ENST00000636865.1:c.-20A>G	ENSP00000490601.1:n.-20A>G
ENST00000636871.1:n.68A>G
ENST00000636978.1:n.129A>G
ENST00000636991.1:n.148A>G
ENST00000637088.1:n.3680A>G
ENST00000637114.1:n.117A>G
ENST00000637268.1:n.130A>G
ENST00000637291.1:n.133A>G
ENST00000637442.1:n.1620A>G
ENST00000637457.1:n.152A>G
ENST00000637682.1:c.125A>G	ENSP00000489856.1:p.His42Arg
ENST00000637684.1:n.227A>G
ENST00000637821.1:c.90+124A>G	ENSP00000490482.1:n.90+124A>G
ENST00000637914.1:n.144A>G
ENST00000637982.1:n.117A>G
ENST00000637994.1:n.135A>G
ENST00000638014.1:c.2906A>G
ENST00000638063.1:c.125A>G	ENSP00000489760.1:p.His42Arg
ENST00000638079.1:c.*641A>G	ENSP00000490120.1:n.*641A>G
ENST00000638092.1:n.115A>G
ENST00000638115.1:c.*1886A>G	ENSP00000490296.1:n.*1886A>G
ENST00000273588.7:c.125A>G	ENSP00000273588.3:p.His42Arg
ENST00000395338.6:c.125A>G	ENSP00000378747.2:p.His42Arg
ENST00000399379.6:c.90+124A>G	ENSP00000399943.1:n.90+124A>G
ENST00000427987.5:c.117A>G
ENST00000430521.1:c.90+124A>G	ENSP00000388068.1:n.90+124A>G
ENST00000458307.6:c.125A>G	ENSP00000415619.2:p.His42Arg
ENST00000462048.1:n.248-188A>G
ENST00000476226.5:n.190A>G
ENST00000478594.5:n.119A>G
ENST00000480957.5:n.133A>G
ENST00000485108.5:n.119A>G
ENST00000487589.5:n.227A>G
ENST00000493046.5:n.91+124A>G
ENST00000495436.5:n.215A>G
ENST00000498571.1:n.123A>G
ENST00000538581.5:c.90+124A>G	ENSP00000443200.1:n.90+124A>G
NM_000481.3:c.125A>G , LRG_537t1:c.125A>G	NP_000472.2:p.His42Arg
NM_001164710.1:c.125A>G	NP_001158182.1:p.His42Arg
NM_001164711.1:c.90+124A>G	NP_001158183.1:n.90+124A>G
NM_001164712.1:c.125A>G	NP_001158184.1:p.His42Arg
NR_028435.1:n.339A>G
NM_000481.4:c.125A>G MANE Select	NP_000472.2:p.His42Arg
NM_001164710.2:c.125A>G	NP_001158182.1:p.His42Arg
NM_001164711.2:c.90+124A>G	NP_001158183.1:n.90+124A>G
NM_001164712.2:c.125A>G	NP_001158184.1:p.His42Arg
NR_028435.2:n.134A>G