Canonical Allele Identifier: CA2398293

Gene: AMT

Linked Data

• ClinVar Variation Id: 531771
• ClinVar RCV Id: RCV000638278 ; RCV001312022 ; RCV002529876 ; RCV003155257 ; RCV003492123
• dbSNP Id: rs201141125
• ExAC: 3:49456754 A / G
• gnomAD v2: 3-49456754-A-G
• gnomAD v3: 3-49419321-A-G
• gnomAD v4: 3-49419321-A-G
• MyVariant Identifiers: chr3:g.49456754A>G (hg19) ; chr3:g.49419321A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49419321A>G , CM000665.2:g.49419321A>G	GRCh38
NC_000003.11:g.49456754A>G , CM000665.1:g.49456754A>G	GRCh37
NC_000003.10:g.49431758A>G	NCBI36
NG_015986.1:g.8358T>C , LRG_537:g.8358T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273588.9:c.635T>C MANE Select	ENSP00000273588.3:p.Val212Ala
ENST00000395338.7:c.635T>C	ENSP00000378747.2:p.Val212Ala
ENST00000399379.7:c.367T>C	ENSP00000399943.2:n.367T>C
ENST00000427987.6:c.491T>C	ENSP00000403821.2:p.Val164Ala
ENST00000430521.2:c.*437T>C	ENSP00000388068.2:n.*437T>C
ENST00000465925.6:n.2529T>C
ENST00000473163.2:n.3143T>C
ENST00000476127.6:n.864T>C
ENST00000476226.6:n.1056T>C
ENST00000476828.2:n.1334T>C
ENST00000478594.6:n.1062T>C
ENST00000480957.6:n.2528T>C
ENST00000487589.6:n.548T>C
ENST00000491800.3:n.3152T>C
ENST00000493046.6:n.2749+389T>C
ENST00000538581.6:c.491T>C	ENSP00000443200.2:p.Val164Ala
ENST00000635772.1:n.1365T>C
ENST00000635798.1:n.330T>C
ENST00000635808.1:c.554T>C	ENSP00000489620.1:p.Val185Ala
ENST00000635889.1:n.1066T>C
ENST00000635907.1:n.530T>C
ENST00000635936.1:n.965-170T>C
ENST00000636023.1:c.551-170T>C	ENSP00000489969.1:n.551-170T>C
ENST00000636070.1:c.*415T>C	ENSP00000490160.1:n.*415T>C
ENST00000636148.1:n.2580T>C
ENST00000636166.1:c.872T>C	ENSP00000490106.1:p.Val291Ala
ENST00000636199.1:c.259-170T>C	ENSP00000490871.1:n.259-170T>C
ENST00000636204.1:n.1917T>C
ENST00000636461.1:c.4169T>C
ENST00000636522.1:c.467T>C	ENSP00000489758.1:p.Val156Ala
ENST00000636587.1:n.783-170T>C
ENST00000636597.1:c.550+389T>C	ENSP00000490251.1:n.550+389T>C
ENST00000636725.1:n.1351T>C
ENST00000636803.1:n.977T>C
ENST00000636865.1:c.479T>C	ENSP00000490601.1:p.Val160Ala
ENST00000636871.1:n.1000T>C
ENST00000636978.1:n.639T>C
ENST00000636991.1:n.1080T>C
ENST00000637059.1:c.149-170T>C	ENSP00000490153.1:n.149-170T>C
ENST00000637088.1:n.5447T>C
ENST00000637114.1:n.627T>C
ENST00000637268.1:n.1366T>C
ENST00000637291.1:n.1369T>C
ENST00000637442.1:n.2856T>C
ENST00000637455.1:c.446T>C	ENSP00000489628.1:p.Val149Ala
ENST00000637457.1:n.1388T>C
ENST00000637682.1:c.635T>C	ENSP00000489856.1:p.Val212Ala
ENST00000637684.1:n.737T>C
ENST00000637821.1:c.*837T>C	ENSP00000490482.1:n.*837T>C
ENST00000637914.1:n.2529T>C
ENST00000637982.1:n.1049T>C
ENST00000637994.1:n.1067T>C
ENST00000638014.1:c.3416T>C
ENST00000638063.1:c.554T>C	ENSP00000489760.1:p.Val185Ala
ENST00000638079.1:c.*1147T>C	ENSP00000490120.1:n.*1147T>C
ENST00000638092.1:n.1047T>C
ENST00000638115.1:c.*2396T>C	ENSP00000490296.1:n.*2396T>C
ENST00000273588.7:c.635T>C	ENSP00000273588.3:p.Val212Ala
ENST00000395338.6:c.635T>C	ENSP00000378747.2:p.Val212Ala
ENST00000399379.6:c.*415T>C	ENSP00000399943.1:n.*415T>C
ENST00000427987.5:c.627T>C
ENST00000430521.1:c.467T>C	ENSP00000388068.1:p.Val156Ala
ENST00000458307.6:c.503T>C	ENSP00000415619.2:p.Val168Ala
ENST00000461210.1:n.817T>C
ENST00000465925.5:n.1825T>C
ENST00000476127.5:n.394T>C
ENST00000476226.5:n.700T>C
ENST00000478594.5:n.1051T>C
ENST00000487589.5:n.737T>C
ENST00000491800.2:n.85T>C
ENST00000495436.5:n.593T>C
ENST00000538581.5:c.467T>C	ENSP00000443200.1:p.Val156Ala
NM_000481.3:c.635T>C , LRG_537t1:c.635T>C	NP_000472.2:p.Val212Ala
NM_001164710.1:c.503T>C	NP_001158182.1:p.Val168Ala
NM_001164711.1:c.467T>C	NP_001158183.1:p.Val156Ala
NM_001164712.1:c.635T>C	NP_001158184.1:p.Val212Ala
NR_028435.1:n.849T>C
NM_000481.4:c.635T>C MANE Select	NP_000472.2:p.Val212Ala
NM_001164710.2:c.503T>C	NP_001158182.1:p.Val168Ala
NM_001164711.2:c.467T>C	NP_001158183.1:p.Val156Ala
NM_001164712.2:c.635T>C	NP_001158184.1:p.Val212Ala
NR_028435.2:n.644T>C