Canonical Allele Identifier: CA352791137

Gene: AMT

Linked Data

• dbSNP Id: rs2049115885
• MyVariant Identifiers: chr3:g.49459598G>T (hg19) ; chr3:g.49422165G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49422165G>T , CM000665.2:g.49422165G>T	GRCh38
NC_000003.11:g.49459598G>T , CM000665.1:g.49459598G>T	GRCh37
NC_000003.10:g.49434602G>T	NCBI36
NG_015986.1:g.5514C>A , LRG_537:g.5514C>A
NG_033046.1:g.12160C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273588.9:c.197C>A MANE Select	ENSP00000273588.3:p.Thr66Asn
ENST00000395338.7:c.197C>A	ENSP00000378747.2:p.Thr66Asn
ENST00000399379.7:c.60+196C>A	ENSP00000399943.2:n.60+196C>A
ENST00000427987.6:c.53C>A	ENSP00000403821.2:p.Thr18Asn
ENST00000430521.2:c.91-116C>A	ENSP00000388068.2:n.91-116C>A
ENST00000462048.2:c.-101-116C>A	ENSP00000490465.1:n.-101-116C>A
ENST00000465925.6:n.216C>A
ENST00000473163.2:n.299C>A
ENST00000476127.6:n.74C>A
ENST00000476226.6:n.196C>A
ENST00000478594.6:n.202C>A
ENST00000480957.6:n.215C>A
ENST00000485108.6:n.327C>A
ENST00000487589.6:n.110C>A
ENST00000491800.3:n.308C>A
ENST00000493046.6:n.294C>A
ENST00000538581.6:c.53C>A	ENSP00000443200.2:p.Thr18Asn
ENST00000635772.1:n.201C>A
ENST00000635808.1:c.197C>A	ENSP00000489620.1:p.Thr66Asn
ENST00000635889.1:n.206C>A
ENST00000635936.1:n.189C>A
ENST00000636023.1:c.197C>A	ENSP00000489969.1:p.Thr66Asn
ENST00000636070.1:c.91-116C>A	ENSP00000490160.1:n.91-116C>A
ENST00000636148.1:n.267C>A
ENST00000636166.1:c.496-593C>A	ENSP00000490106.1:n.496-593C>A
ENST00000636199.1:c.197C>A	ENSP00000490871.1:p.Thr66Asn
ENST00000636204.1:n.1479C>A
ENST00000636461.1:c.3309C>A
ENST00000636522.1:c.90+196C>A	ENSP00000489758.1:n.90+196C>A
ENST00000636587.1:n.429C>A
ENST00000636597.1:c.197C>A	ENSP00000490251.1:p.Thr66Asn
ENST00000636725.1:n.187C>A
ENST00000636803.1:n.187C>A
ENST00000636865.1:c.53C>A	ENSP00000490601.1:p.Thr18Asn
ENST00000636871.1:n.140C>A
ENST00000636978.1:n.201C>A
ENST00000636991.1:n.220C>A
ENST00000637059.1:c.8C>A	ENSP00000490153.1:p.Thr3Asn
ENST00000637088.1:n.3752C>A
ENST00000637114.1:n.189C>A
ENST00000637268.1:n.202C>A
ENST00000637291.1:n.205C>A
ENST00000637442.1:n.1692C>A
ENST00000637455.1:c.8C>A	ENSP00000489628.1:p.Thr3Asn
ENST00000637457.1:n.224C>A
ENST00000637682.1:c.197C>A	ENSP00000489856.1:p.Thr66Asn
ENST00000637684.1:n.299C>A
ENST00000637821.1:c.91-116C>A	ENSP00000490482.1:n.91-116C>A
ENST00000637914.1:n.216C>A
ENST00000637982.1:n.189C>A
ENST00000637994.1:n.207C>A
ENST00000638014.1:c.2978C>A
ENST00000638063.1:c.197C>A	ENSP00000489760.1:p.Thr66Asn
ENST00000638079.1:c.*713C>A	ENSP00000490120.1:n.*713C>A
ENST00000638092.1:n.187C>A
ENST00000638115.1:c.*1958C>A	ENSP00000490296.1:n.*1958C>A
ENST00000273588.7:c.197C>A	ENSP00000273588.3:p.Thr66Asn
ENST00000395338.6:c.197C>A	ENSP00000378747.2:p.Thr66Asn
ENST00000399379.6:c.91-116C>A	ENSP00000399943.1:n.91-116C>A
ENST00000427987.5:c.189C>A
ENST00000430521.1:c.90+196C>A	ENSP00000388068.1:n.90+196C>A
ENST00000458307.6:c.197C>A	ENSP00000415619.2:p.Thr66Asn
ENST00000462048.1:n.248-116C>A
ENST00000476226.5:n.262C>A
ENST00000478594.5:n.191C>A
ENST00000480957.5:n.205C>A
ENST00000485108.5:n.191C>A
ENST00000487589.5:n.299C>A
ENST00000493046.5:n.92-116C>A
ENST00000495436.5:n.287C>A
ENST00000498571.1:n.195C>A
ENST00000538581.5:c.90+196C>A	ENSP00000443200.1:n.90+196C>A
NM_000481.3:c.197C>A , LRG_537t1:c.197C>A	NP_000472.2:p.Thr66Asn
NM_001164710.1:c.197C>A	NP_001158182.1:p.Thr66Asn
NM_001164711.1:c.90+196C>A	NP_001158183.1:n.90+196C>A
NM_001164712.1:c.197C>A	NP_001158184.1:p.Thr66Asn
NR_028435.1:n.411C>A
NM_000481.4:c.197C>A MANE Select	NP_000472.2:p.Thr66Asn
NM_001164710.2:c.197C>A	NP_001158182.1:p.Thr66Asn
NM_001164711.2:c.90+196C>A	NP_001158183.1:n.90+196C>A
NM_001164712.2:c.197C>A	NP_001158184.1:p.Thr66Asn
NR_028435.2:n.206C>A