Canonical Allele Identifier: CA2398197

Gene: AMT

Linked Data

• ClinVar Variation Id: 1406562
• ClinVar RCV Id: RCV001915882 ; RCV002555669
• dbSNP Id: rs777583902
• ExAC: 3:49455332 G / A
• gnomAD v2: 3-49455332-G-A
• gnomAD v3: 3-49417899-G-A
• gnomAD v4: 3-49417899-G-A
• MyVariant Identifiers: chr3:g.49455332G>A (hg19) ; chr3:g.49417899G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49417899G>A , CM000665.2:g.49417899G>A	GRCh38
NC_000003.11:g.49455332G>A , CM000665.1:g.49455332G>A	GRCh37
NC_000003.10:g.49430336G>A	NCBI36
NG_015986.1:g.9780C>T , LRG_537:g.9780C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273588.9:c.952C>T MANE Select	ENSP00000273588.3:p.Arg318Trp
ENST00000395338.7:c.952C>T	ENSP00000378747.2:p.Arg318Trp
ENST00000399379.7:c.684C>T	ENSP00000399943.2:n.684C>T
ENST00000427987.6:c.808C>T	ENSP00000403821.2:p.Arg270Trp
ENST00000465925.6:n.2954C>T
ENST00000473163.2:n.3568C>T
ENST00000476127.6:n.1181C>T
ENST00000476226.6:n.1373C>T
ENST00000478594.6:n.1379C>T
ENST00000493046.6:n.2750-181C>T
ENST00000538581.6:c.808C>T	ENSP00000443200.2:p.Arg270Trp
ENST00000635772.1:n.1790C>T
ENST00000635798.1:n.392-181C>T
ENST00000635808.1:c.871C>T	ENSP00000489620.1:p.Arg291Trp
ENST00000635889.1:n.1445C>T
ENST00000635907.1:n.592-181C>T
ENST00000635936.1:n.1220C>T
ENST00000636023.1:c.*125C>T	ENSP00000489969.1:n.*125C>T
ENST00000636070.1:c.*732C>T	ENSP00000490160.1:n.*732C>T
ENST00000636148.1:n.3005C>T
ENST00000636166.1:c.1189C>T	ENSP00000490106.1:p.Arg397Trp
ENST00000636188.1:c.131C>T
ENST00000636199.1:c.514C>T	ENSP00000490871.1:p.Arg172Trp
ENST00000636204.1:n.2234C>T
ENST00000636461.1:c.4486C>T
ENST00000636522.1:c.784C>T	ENSP00000489758.1:p.Arg262Trp
ENST00000636587.1:n.1038C>T
ENST00000636594.1:n.474C>T
ENST00000636597.1:c.551-181C>T	ENSP00000490251.1:n.551-181C>T
ENST00000636725.1:n.1668C>T
ENST00000636803.1:n.1294C>T
ENST00000636865.1:c.796C>T	ENSP00000490601.1:p.Arg266Trp
ENST00000636871.1:n.1317C>T
ENST00000636978.1:n.1064C>T
ENST00000636991.1:n.1397C>T
ENST00000637059.1:c.404C>T	ENSP00000490153.1:n.404C>T
ENST00000637088.1:n.5764C>T
ENST00000637114.1:n.1052C>T
ENST00000637268.1:n.1853C>T
ENST00000637291.1:n.1686C>T
ENST00000637442.1:n.3173C>T
ENST00000637455.1:c.763C>T	ENSP00000489628.1:p.Arg255Trp
ENST00000637457.1:n.1813C>T
ENST00000637527.1:n.244C>T
ENST00000637682.1:c.878-181C>T	ENSP00000489856.1:n.878-181C>T
ENST00000637684.1:n.1162C>T
ENST00000637821.1:c.*1228+34C>T	ENSP00000490482.1:n.*1228+34C>T
ENST00000637914.1:n.2846C>T
ENST00000637982.1:n.1366C>T
ENST00000637994.1:n.1492C>T
ENST00000638014.1:c.3733C>T
ENST00000638063.1:c.871C>T	ENSP00000489760.1:p.Arg291Trp
ENST00000638079.1:c.*1464C>T	ENSP00000490120.1:n.*1464C>T
ENST00000638092.1:n.1472C>T
ENST00000638115.1:c.*2713C>T	ENSP00000490296.1:n.*2713C>T
ENST00000273588.7:c.952C>T	ENSP00000273588.3:p.Arg318Trp
ENST00000395338.6:c.952C>T	ENSP00000378747.2:p.Arg318Trp
ENST00000399379.6:c.*732C>T	ENSP00000399943.1:n.*732C>T
ENST00000427987.5:c.944C>T
ENST00000430521.1:c.784C>T	ENSP00000388068.1:p.Arg262Trp
ENST00000458307.6:c.820C>T	ENSP00000415619.2:p.Arg274Trp
ENST00000465925.5:n.2250C>T
ENST00000473163.1:n.321C>T
ENST00000476127.5:n.711C>T
ENST00000476226.5:n.1017C>T
ENST00000495436.5:n.655-181C>T
ENST00000538581.5:c.784C>T	ENSP00000443200.1:p.Arg262Trp
NM_000481.3:c.952C>T , LRG_537t1:c.952C>T	NP_000472.2:p.Arg318Trp
NM_001164710.1:c.820C>T	NP_001158182.1:p.Arg274Trp
NM_001164711.1:c.784C>T	NP_001158183.1:p.Arg262Trp
NM_001164712.1:c.952C>T	NP_001158184.1:p.Arg318Trp
NR_028435.1:n.1166C>T
NM_000481.4:c.952C>T MANE Select	NP_000472.2:p.Arg318Trp
NM_001164710.2:c.820C>T	NP_001158182.1:p.Arg274Trp
NM_001164711.2:c.784C>T	NP_001158183.1:p.Arg262Trp
NM_001164712.2:c.952C>T	NP_001158184.1:p.Arg318Trp
NR_028435.2:n.961C>T