Canonical Allele Identifier: CA2398463

Gene: AMT

Linked Data

• ClinVar Variation Id: 346037
• ClinVar RCV Id: RCV000398839 ; RCV000710536
• dbSNP Id: rs34812788
• ExAC: 3:49459643 G / A
• gnomAD v2: 3-49459643-G-A
• gnomAD v3: 3-49422210-G-A
• gnomAD v4: 3-49422210-G-A
• MyVariant Identifiers: chr3:g.49459643G>A (hg19) ; chr3:g.49422210G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49422210G>A , CM000665.2:g.49422210G>A	GRCh38
NC_000003.11:g.49459643G>A , CM000665.1:g.49459643G>A	GRCh37
NC_000003.10:g.49434647G>A	NCBI36
NG_015986.1:g.5469C>T , LRG_537:g.5469C>T
NG_033046.1:g.12115C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273588.9:c.152C>T MANE Select	ENSP00000273588.3:p.Ala51Val
ENST00000395338.7:c.152C>T	ENSP00000378747.2:p.Ala51Val
ENST00000399379.7:c.60+151C>T	ENSP00000399943.2:n.60+151C>T
ENST00000427987.6:c.8C>T	ENSP00000403821.2:p.Ala3Val
ENST00000430521.2:c.90+151C>T	ENSP00000388068.2:n.90+151C>T
ENST00000462048.2:c.-101-161C>T	ENSP00000490465.1:n.-101-161C>T
ENST00000465925.6:n.171C>T
ENST00000473163.2:n.254C>T
ENST00000476127.6:n.29C>T
ENST00000476226.6:n.151C>T
ENST00000478594.6:n.157C>T
ENST00000480957.6:n.170C>T
ENST00000485108.6:n.282C>T
ENST00000487589.6:n.65C>T
ENST00000491800.3:n.263C>T
ENST00000493046.6:n.249C>T
ENST00000538581.6:c.8C>T	ENSP00000443200.2:p.Ala3Val
ENST00000635772.1:n.156C>T
ENST00000635808.1:c.152C>T	ENSP00000489620.1:p.Ala51Val
ENST00000635889.1:n.161C>T
ENST00000635936.1:n.144C>T
ENST00000636023.1:c.152C>T	ENSP00000489969.1:p.Ala51Val
ENST00000636070.1:c.90+151C>T	ENSP00000490160.1:n.90+151C>T
ENST00000636148.1:n.222C>T
ENST00000636166.1:c.496-638C>T	ENSP00000490106.1:n.496-638C>T
ENST00000636199.1:c.152C>T	ENSP00000490871.1:p.Ala51Val
ENST00000636204.1:n.1434C>T
ENST00000636461.1:c.3264C>T
ENST00000636522.1:c.90+151C>T	ENSP00000489758.1:n.90+151C>T
ENST00000636587.1:n.384C>T
ENST00000636597.1:c.152C>T	ENSP00000490251.1:p.Ala51Val
ENST00000636725.1:n.142C>T
ENST00000636803.1:n.142C>T
ENST00000636865.1:c.8C>T	ENSP00000490601.1:p.Ala3Val
ENST00000636871.1:n.95C>T
ENST00000636978.1:n.156C>T
ENST00000636991.1:n.175C>T
ENST00000637088.1:n.3707C>T
ENST00000637114.1:n.144C>T
ENST00000637268.1:n.157C>T
ENST00000637291.1:n.160C>T
ENST00000637442.1:n.1647C>T
ENST00000637457.1:n.179C>T
ENST00000637682.1:c.152C>T	ENSP00000489856.1:p.Ala51Val
ENST00000637684.1:n.254C>T
ENST00000637821.1:c.90+151C>T	ENSP00000490482.1:n.90+151C>T
ENST00000637914.1:n.171C>T
ENST00000637982.1:n.144C>T
ENST00000637994.1:n.162C>T
ENST00000638014.1:c.2933C>T
ENST00000638063.1:c.152C>T	ENSP00000489760.1:p.Ala51Val
ENST00000638079.1:c.*668C>T	ENSP00000490120.1:n.*668C>T
ENST00000638092.1:n.142C>T
ENST00000638115.1:c.*1913C>T	ENSP00000490296.1:n.*1913C>T
ENST00000273588.7:c.152C>T	ENSP00000273588.3:p.Ala51Val
ENST00000395338.6:c.152C>T	ENSP00000378747.2:p.Ala51Val
ENST00000399379.6:c.90+151C>T	ENSP00000399943.1:n.90+151C>T
ENST00000427987.5:c.144C>T
ENST00000430521.1:c.90+151C>T	ENSP00000388068.1:n.90+151C>T
ENST00000458307.6:c.152C>T	ENSP00000415619.2:p.Ala51Val
ENST00000462048.1:n.248-161C>T
ENST00000476226.5:n.217C>T
ENST00000478594.5:n.146C>T
ENST00000480957.5:n.160C>T
ENST00000485108.5:n.146C>T
ENST00000487589.5:n.254C>T
ENST00000493046.5:n.91+151C>T
ENST00000495436.5:n.242C>T
ENST00000498571.1:n.150C>T
ENST00000538581.5:c.90+151C>T	ENSP00000443200.1:n.90+151C>T
NM_000481.3:c.152C>T , LRG_537t1:c.152C>T	NP_000472.2:p.Ala51Val
NM_001164710.1:c.152C>T	NP_001158182.1:p.Ala51Val
NM_001164711.1:c.90+151C>T	NP_001158183.1:n.90+151C>T
NM_001164712.1:c.152C>T	NP_001158184.1:p.Ala51Val
NR_028435.1:n.366C>T
NM_000481.4:c.152C>T MANE Select	NP_000472.2:p.Ala51Val
NM_001164710.2:c.152C>T	NP_001158182.1:p.Ala51Val
NM_001164711.2:c.90+151C>T	NP_001158183.1:n.90+151C>T
NM_001164712.2:c.152C>T	NP_001158184.1:p.Ala51Val
NR_028435.2:n.161C>T