Canonical Allele Identifier: CA263578

Gene: AMT

Linked Data

• ClinVar Variation Id: 56233
• ClinVar RCV Id: RCV000049645
• dbSNP Id: rs386833684
• gnomAD v2: 3-49457642-A-G
• gnomAD v4: 3-49420209-A-G
• MyVariant Identifiers: chr3:g.49457642A>G (hg19) ; chr3:g.49420209A>G (hg38)
• PubMed: PMID:16450403

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49420209A>G , CM000665.2:g.49420209A>G	GRCh38
NC_000003.11:g.49457642A>G , CM000665.1:g.49457642A>G	GRCh37
NC_000003.10:g.49432646A>G	NCBI36
NG_015986.1:g.7470T>C , LRG_537:g.7470T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273588.9:c.471+2T>C MANE Select	ENSP00000273588.3:n.471+2T>C
ENST00000395338.7:c.471+2T>C	ENSP00000378747.2:n.471+2T>C
ENST00000399379.7:c.273+2T>C	ENSP00000399943.2:n.273+2T>C
ENST00000427987.6:c.327+2T>C	ENSP00000403821.2:n.327+2T>C
ENST00000430521.2:c.*273+2T>C	ENSP00000388068.2:n.*273+2T>C
ENST00000462048.2:c.180+2T>C	ENSP00000490465.1:n.180+2T>C
ENST00000465925.6:n.1641T>C
ENST00000473163.2:n.2255T>C
ENST00000476127.6:n.350T>C
ENST00000476226.6:n.472T>C
ENST00000476828.2:n.446T>C
ENST00000478594.6:n.478T>C
ENST00000480957.6:n.1640T>C
ENST00000487589.6:n.384+2T>C
ENST00000491800.3:n.2264T>C
ENST00000493046.6:n.2250T>C
ENST00000538581.6:c.327+2T>C	ENSP00000443200.2:n.327+2T>C
ENST00000635772.1:n.477T>C
ENST00000635808.1:c.390+2T>C	ENSP00000489620.1:n.390+2T>C
ENST00000635889.1:n.482T>C
ENST00000635936.1:n.465T>C
ENST00000636023.1:c.471+2T>C	ENSP00000489969.1:n.471+2T>C
ENST00000636070.1:c.*251+2T>C	ENSP00000490160.1:n.*251+2T>C
ENST00000636148.1:n.1692T>C
ENST00000636166.1:c.708+2T>C	ENSP00000490106.1:n.708+2T>C
ENST00000636199.1:c.259-1058T>C	ENSP00000490871.1:n.259-1058T>C
ENST00000636204.1:n.1753+2T>C
ENST00000636461.1:c.3585T>C
ENST00000636522.1:c.303+2T>C	ENSP00000489758.1:n.303+2T>C
ENST00000636587.1:n.703+2T>C
ENST00000636597.1:c.471+2T>C	ENSP00000490251.1:n.471+2T>C
ENST00000636725.1:n.463T>C
ENST00000636803.1:n.463T>C
ENST00000636865.1:c.327+2T>C	ENSP00000490601.1:n.327+2T>C
ENST00000636871.1:n.416T>C
ENST00000636978.1:n.475+2T>C
ENST00000636991.1:n.496T>C
ENST00000637059.1:c.70-421T>C	ENSP00000490153.1:n.70-421T>C
ENST00000637088.1:n.4559T>C
ENST00000637114.1:n.463+2T>C
ENST00000637268.1:n.478T>C
ENST00000637291.1:n.481T>C
ENST00000637442.1:n.1968T>C
ENST00000637455.1:c.282+2T>C	ENSP00000489628.1:n.282+2T>C
ENST00000637457.1:n.500T>C
ENST00000637682.1:c.471+2T>C	ENSP00000489856.1:n.471+2T>C
ENST00000637684.1:n.573+2T>C
ENST00000637821.1:c.*253T>C	ENSP00000490482.1:n.*253T>C
ENST00000637914.1:n.1641T>C
ENST00000637982.1:n.465T>C
ENST00000637994.1:n.483T>C
ENST00000638014.1:c.3252+2T>C
ENST00000638063.1:c.390+2T>C	ENSP00000489760.1:n.390+2T>C
ENST00000638079.1:c.*983+6T>C	ENSP00000490120.1:n.*983+6T>C
ENST00000638092.1:n.463T>C
ENST00000638115.1:c.*2232+2T>C	ENSP00000490296.1:n.*2232+2T>C
ENST00000273588.7:c.471+2T>C	ENSP00000273588.3:n.471+2T>C
ENST00000395338.6:c.471+2T>C	ENSP00000378747.2:n.471+2T>C
ENST00000399379.6:c.*251+2T>C	ENSP00000399943.1:n.*251+2T>C
ENST00000427987.5:c.463+2T>C
ENST00000430521.1:c.303+2T>C	ENSP00000388068.1:n.303+2T>C
ENST00000458307.6:c.340-421T>C	ENSP00000415619.2:n.340-421T>C
ENST00000461210.1:n.653+2T>C
ENST00000465925.5:n.937T>C
ENST00000476226.5:n.536+2T>C
ENST00000476828.1:n.446T>C
ENST00000478594.5:n.467T>C
ENST00000480957.5:n.481T>C
ENST00000485108.5:n.467T>C
ENST00000487589.5:n.573+2T>C
ENST00000493046.5:n.374T>C
ENST00000495436.5:n.430-421T>C
ENST00000538581.5:c.303+2T>C	ENSP00000443200.1:n.303+2T>C
NM_000481.3:c.471+2T>C , LRG_537t1:c.471+2T>C	NP_000472.2:n.471+2T>C
NM_001164710.1:c.340-421T>C	NP_001158182.1:n.340-421T>C
NM_001164711.1:c.303+2T>C	NP_001158183.1:n.303+2T>C
NM_001164712.1:c.471+2T>C	NP_001158184.1:n.471+2T>C
NR_028435.1:n.685+2T>C
NM_000481.4:c.471+2T>C MANE Select	NP_000472.2:n.471+2T>C
NM_001164710.2:c.340-421T>C	NP_001158182.1:n.340-421T>C
NM_001164711.2:c.303+2T>C	NP_001158183.1:n.303+2T>C
NM_001164712.2:c.471+2T>C	NP_001158184.1:n.471+2T>C
NR_028435.2:n.480+2T>C