Canonical Allele Identifier: CA543049531

Gene: AMT

Linked Data

• dbSNP Id: rs1237590526
• gnomAD v2: 3-49455453-G-A
• gnomAD v4: 3-49418020-G-A
• MyVariant Identifiers: chr3:g.49455453G>A (hg19) ; chr3:g.49418020G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49418020G>A , CM000665.2:g.49418020G>A	GRCh38
NC_000003.11:g.49455453G>A , CM000665.1:g.49455453G>A	GRCh37
NC_000003.10:g.49430457G>A	NCBI36
NG_015986.1:g.9659C>T , LRG_537:g.9659C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273588.9:c.878-47C>T MANE Select	ENSP00000273588.3:n.878-47C>T
ENST00000395338.7:c.878-47C>T	ENSP00000378747.2:n.878-47C>T
ENST00000399379.7:c.610-47C>T	ENSP00000399943.2:n.610-47C>T
ENST00000427987.6:c.734-47C>T	ENSP00000403821.2:n.734-47C>T
ENST00000465925.6:n.2880-47C>T
ENST00000473163.2:n.3494-47C>T
ENST00000476127.6:n.1107-47C>T
ENST00000476226.6:n.1299-47C>T
ENST00000478594.6:n.1305-47C>T
ENST00000493046.6:n.2750-302C>T
ENST00000538581.6:c.734-47C>T	ENSP00000443200.2:n.734-47C>T
ENST00000635772.1:n.1716-47C>T
ENST00000635798.1:n.392-302C>T
ENST00000635808.1:c.797-47C>T	ENSP00000489620.1:n.797-47C>T
ENST00000635889.1:n.1371-47C>T
ENST00000635907.1:n.592-302C>T
ENST00000635936.1:n.1146-47C>T
ENST00000636023.1:c.*51-47C>T	ENSP00000489969.1:n.*51-47C>T
ENST00000636070.1:c.*658-47C>T	ENSP00000490160.1:n.*658-47C>T
ENST00000636148.1:n.2931-47C>T
ENST00000636166.1:c.1115-47C>T	ENSP00000490106.1:n.1115-47C>T
ENST00000636188.1:c.57-47C>T
ENST00000636199.1:c.440-47C>T	ENSP00000490871.1:n.440-47C>T
ENST00000636204.1:n.2160-47C>T
ENST00000636461.1:c.4412-47C>T
ENST00000636522.1:c.710-47C>T	ENSP00000489758.1:n.710-47C>T
ENST00000636587.1:n.964-47C>T
ENST00000636594.1:n.353C>T
ENST00000636597.1:c.551-302C>T	ENSP00000490251.1:n.551-302C>T
ENST00000636725.1:n.1594-47C>T
ENST00000636803.1:n.1220-47C>T
ENST00000636865.1:c.722-47C>T	ENSP00000490601.1:n.722-47C>T
ENST00000636871.1:n.1243-47C>T
ENST00000636978.1:n.990-47C>T
ENST00000636991.1:n.1323-47C>T
ENST00000637059.1:c.330-47C>T	ENSP00000490153.1:n.330-47C>T
ENST00000637088.1:n.5690-47C>T
ENST00000637114.1:n.978-47C>T
ENST00000637268.1:n.1779-47C>T
ENST00000637291.1:n.1612-47C>T
ENST00000637442.1:n.3099-47C>T
ENST00000637455.1:c.689-47C>T	ENSP00000489628.1:n.689-47C>T
ENST00000637457.1:n.1739-47C>T
ENST00000637527.1:n.123C>T
ENST00000637682.1:c.878-302C>T	ENSP00000489856.1:n.878-302C>T
ENST00000637684.1:n.1088-47C>T
ENST00000637821.1:c.*1188-47C>T	ENSP00000490482.1:n.*1188-47C>T
ENST00000637914.1:n.2772-47C>T
ENST00000637982.1:n.1292-47C>T
ENST00000637994.1:n.1418-47C>T
ENST00000638014.1:c.3659-47C>T
ENST00000638063.1:c.797-47C>T	ENSP00000489760.1:n.797-47C>T
ENST00000638079.1:c.*1390-47C>T	ENSP00000490120.1:n.*1390-47C>T
ENST00000638092.1:n.1398-47C>T
ENST00000638115.1:c.*2639-47C>T	ENSP00000490296.1:n.*2639-47C>T
ENST00000273588.7:c.878-47C>T	ENSP00000273588.3:n.878-47C>T
ENST00000395338.6:c.878-47C>T	ENSP00000378747.2:n.878-47C>T
ENST00000399379.6:c.*658-47C>T	ENSP00000399943.1:n.*658-47C>T
ENST00000427987.5:c.870-47C>T
ENST00000430521.1:c.710-47C>T	ENSP00000388068.1:n.710-47C>T
ENST00000458307.6:c.746-47C>T	ENSP00000415619.2:n.746-47C>T
ENST00000465925.5:n.2176-47C>T
ENST00000473163.1:n.247-47C>T
ENST00000476127.5:n.637-47C>T
ENST00000476226.5:n.943-47C>T
ENST00000495436.5:n.655-302C>T
ENST00000538581.5:c.710-47C>T	ENSP00000443200.1:n.710-47C>T
NM_000481.3:c.878-47C>T , LRG_537t1:c.878-47C>T	NP_000472.2:n.878-47C>T
NM_001164710.1:c.746-47C>T	NP_001158182.1:n.746-47C>T
NM_001164711.1:c.710-47C>T	NP_001158183.1:n.710-47C>T
NM_001164712.1:c.878-47C>T	NP_001158184.1:n.878-47C>T
NR_028435.1:n.1092-47C>T
NM_000481.4:c.878-47C>T MANE Select	NP_000472.2:n.878-47C>T
NM_001164710.2:c.746-47C>T	NP_001158182.1:n.746-47C>T
NM_001164711.2:c.710-47C>T	NP_001158183.1:n.710-47C>T
NM_001164712.2:c.878-47C>T	NP_001158184.1:n.878-47C>T
NR_028435.2:n.887-47C>T