Canonical Allele Identifier: CA2398460

Gene: AMT

Linked Data

• ClinVar Variation Id: 965150
• ClinVar RCV Id: RCV001239522
• dbSNP Id: rs201080782
• ExAC: 3:49459636 C / T
• gnomAD v2: 3-49459636-C-T
• gnomAD v3: 3-49422203-C-T
• gnomAD v4: 3-49422203-C-T
• MyVariant Identifiers: chr3:g.49459636C>T (hg19) ; chr3:g.49422203C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49422203C>T , CM000665.2:g.49422203C>T	GRCh38
NC_000003.11:g.49459636C>T , CM000665.1:g.49459636C>T	GRCh37
NC_000003.10:g.49434640C>T	NCBI36
NG_015986.1:g.5476G>A , LRG_537:g.5476G>A
NG_033046.1:g.12122G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273588.9:c.159G>A MANE Select	ENSP00000273588.3:p.Ala53=
ENST00000395338.7:c.159G>A	ENSP00000378747.2:p.Ala53=
ENST00000399379.7:c.60+158G>A	ENSP00000399943.2:n.60+158G>A
ENST00000427987.6:c.15G>A	ENSP00000403821.2:p.Ala5=
ENST00000430521.2:c.91-154G>A	ENSP00000388068.2:n.91-154G>A
ENST00000462048.2:c.-101-154G>A	ENSP00000490465.1:n.-101-154G>A
ENST00000465925.6:n.178G>A
ENST00000473163.2:n.261G>A
ENST00000476127.6:n.36G>A
ENST00000476226.6:n.158G>A
ENST00000478594.6:n.164G>A
ENST00000480957.6:n.177G>A
ENST00000485108.6:n.289G>A
ENST00000487589.6:n.72G>A
ENST00000491800.3:n.270G>A
ENST00000493046.6:n.256G>A
ENST00000538581.6:c.15G>A	ENSP00000443200.2:p.Ala5=
ENST00000635772.1:n.163G>A
ENST00000635808.1:c.159G>A	ENSP00000489620.1:p.Ala53=
ENST00000635889.1:n.168G>A
ENST00000635936.1:n.151G>A
ENST00000636023.1:c.159G>A	ENSP00000489969.1:p.Ala53=
ENST00000636070.1:c.91-154G>A	ENSP00000490160.1:n.91-154G>A
ENST00000636148.1:n.229G>A
ENST00000636166.1:c.496-631G>A	ENSP00000490106.1:n.496-631G>A
ENST00000636199.1:c.159G>A	ENSP00000490871.1:p.Ala53=
ENST00000636204.1:n.1441G>A
ENST00000636461.1:c.3271G>A
ENST00000636522.1:c.90+158G>A	ENSP00000489758.1:n.90+158G>A
ENST00000636587.1:n.391G>A
ENST00000636597.1:c.159G>A	ENSP00000490251.1:p.Ala53=
ENST00000636725.1:n.149G>A
ENST00000636803.1:n.149G>A
ENST00000636865.1:c.15G>A	ENSP00000490601.1:p.Ala5=
ENST00000636871.1:n.102G>A
ENST00000636978.1:n.163G>A
ENST00000636991.1:n.182G>A
ENST00000637088.1:n.3714G>A
ENST00000637114.1:n.151G>A
ENST00000637268.1:n.164G>A
ENST00000637291.1:n.167G>A
ENST00000637442.1:n.1654G>A
ENST00000637457.1:n.186G>A
ENST00000637682.1:c.159G>A	ENSP00000489856.1:p.Ala53=
ENST00000637684.1:n.261G>A
ENST00000637821.1:c.91-154G>A	ENSP00000490482.1:n.91-154G>A
ENST00000637914.1:n.178G>A
ENST00000637982.1:n.151G>A
ENST00000637994.1:n.169G>A
ENST00000638014.1:c.2940G>A
ENST00000638063.1:c.159G>A	ENSP00000489760.1:p.Ala53=
ENST00000638079.1:c.*675G>A	ENSP00000490120.1:n.*675G>A
ENST00000638092.1:n.149G>A
ENST00000638115.1:c.*1920G>A	ENSP00000490296.1:n.*1920G>A
ENST00000273588.7:c.159G>A	ENSP00000273588.3:p.Ala53=
ENST00000395338.6:c.159G>A	ENSP00000378747.2:p.Ala53=
ENST00000399379.6:c.91-154G>A	ENSP00000399943.1:n.91-154G>A
ENST00000427987.5:c.151G>A
ENST00000430521.1:c.90+158G>A	ENSP00000388068.1:n.90+158G>A
ENST00000458307.6:c.159G>A	ENSP00000415619.2:p.Ala53=
ENST00000462048.1:n.248-154G>A
ENST00000476226.5:n.224G>A
ENST00000478594.5:n.153G>A
ENST00000480957.5:n.167G>A
ENST00000485108.5:n.153G>A
ENST00000487589.5:n.261G>A
ENST00000493046.5:n.92-154G>A
ENST00000495436.5:n.249G>A
ENST00000498571.1:n.157G>A
ENST00000538581.5:c.90+158G>A	ENSP00000443200.1:n.90+158G>A
NM_000481.3:c.159G>A , LRG_537t1:c.159G>A	NP_000472.2:p.Ala53=
NM_001164710.1:c.159G>A	NP_001158182.1:p.Ala53=
NM_001164711.1:c.90+158G>A	NP_001158183.1:n.90+158G>A
NM_001164712.1:c.159G>A	NP_001158184.1:p.Ala53=
NR_028435.1:n.373G>A
NM_000481.4:c.159G>A MANE Select	NP_000472.2:p.Ala53=
NM_001164710.2:c.159G>A	NP_001158182.1:p.Ala53=
NM_001164711.2:c.90+158G>A	NP_001158183.1:n.90+158G>A
NM_001164712.2:c.159G>A	NP_001158184.1:p.Ala53=
NR_028435.2:n.168G>A