Canonical Allele Identifier: CA1363479663

Gene: AMT

Linked Data

• dbSNP Id: rs2049029814
• gnomAD v4: 3-49418027-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49418027G>A , CM000665.2:g.49418027G>A	GRCh38
NC_000003.11:g.49455460G>A , CM000665.1:g.49455460G>A	GRCh37
NC_000003.10:g.49430464G>A	NCBI36
NG_015986.1:g.9652C>T , LRG_537:g.9652C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273588.9:c.878-54C>T MANE Select	ENSP00000273588.3:n.878-54C>T
ENST00000395338.7:c.878-54C>T	ENSP00000378747.2:n.878-54C>T
ENST00000399379.7:c.610-54C>T	ENSP00000399943.2:n.610-54C>T
ENST00000427987.6:c.734-54C>T	ENSP00000403821.2:n.734-54C>T
ENST00000465925.6:n.2880-54C>T
ENST00000473163.2:n.3494-54C>T
ENST00000476127.6:n.1107-54C>T
ENST00000476226.6:n.1299-54C>T
ENST00000478594.6:n.1305-54C>T
ENST00000493046.6:n.2750-309C>T
ENST00000538581.6:c.734-54C>T	ENSP00000443200.2:n.734-54C>T
ENST00000635772.1:n.1716-54C>T
ENST00000635798.1:n.392-309C>T
ENST00000635808.1:c.797-54C>T	ENSP00000489620.1:n.797-54C>T
ENST00000635889.1:n.1371-54C>T
ENST00000635907.1:n.592-309C>T
ENST00000635936.1:n.1146-54C>T
ENST00000636023.1:c.*51-54C>T	ENSP00000489969.1:n.*51-54C>T
ENST00000636070.1:c.*658-54C>T	ENSP00000490160.1:n.*658-54C>T
ENST00000636148.1:n.2931-54C>T
ENST00000636166.1:c.1115-54C>T	ENSP00000490106.1:n.1115-54C>T
ENST00000636188.1:c.57-54C>T
ENST00000636199.1:c.440-54C>T	ENSP00000490871.1:n.440-54C>T
ENST00000636204.1:n.2160-54C>T
ENST00000636461.1:c.4412-54C>T
ENST00000636522.1:c.710-54C>T	ENSP00000489758.1:n.710-54C>T
ENST00000636587.1:n.964-54C>T
ENST00000636594.1:n.346C>T
ENST00000636597.1:c.551-309C>T	ENSP00000490251.1:n.551-309C>T
ENST00000636725.1:n.1594-54C>T
ENST00000636803.1:n.1220-54C>T
ENST00000636865.1:c.722-54C>T	ENSP00000490601.1:n.722-54C>T
ENST00000636871.1:n.1243-54C>T
ENST00000636978.1:n.990-54C>T
ENST00000636991.1:n.1323-54C>T
ENST00000637059.1:c.330-54C>T	ENSP00000490153.1:n.330-54C>T
ENST00000637088.1:n.5690-54C>T
ENST00000637114.1:n.978-54C>T
ENST00000637268.1:n.1779-54C>T
ENST00000637291.1:n.1612-54C>T
ENST00000637442.1:n.3099-54C>T
ENST00000637455.1:c.689-54C>T	ENSP00000489628.1:n.689-54C>T
ENST00000637457.1:n.1739-54C>T
ENST00000637527.1:n.116C>T
ENST00000637682.1:c.878-309C>T	ENSP00000489856.1:n.878-309C>T
ENST00000637684.1:n.1088-54C>T
ENST00000637821.1:c.*1188-54C>T	ENSP00000490482.1:n.*1188-54C>T
ENST00000637914.1:n.2772-54C>T
ENST00000637982.1:n.1292-54C>T
ENST00000637994.1:n.1418-54C>T
ENST00000638014.1:c.3659-54C>T
ENST00000638063.1:c.797-54C>T	ENSP00000489760.1:n.797-54C>T
ENST00000638079.1:c.*1390-54C>T	ENSP00000490120.1:n.*1390-54C>T
ENST00000638092.1:n.1398-54C>T
ENST00000638115.1:c.*2639-54C>T	ENSP00000490296.1:n.*2639-54C>T
ENST00000273588.7:c.878-54C>T	ENSP00000273588.3:n.878-54C>T
ENST00000395338.6:c.878-54C>T	ENSP00000378747.2:n.878-54C>T
ENST00000399379.6:c.*658-54C>T	ENSP00000399943.1:n.*658-54C>T
ENST00000427987.5:c.870-54C>T
ENST00000430521.1:c.710-54C>T	ENSP00000388068.1:n.710-54C>T
ENST00000458307.6:c.746-54C>T	ENSP00000415619.2:n.746-54C>T
ENST00000465925.5:n.2176-54C>T
ENST00000473163.1:n.247-54C>T
ENST00000476127.5:n.637-54C>T
ENST00000476226.5:n.943-54C>T
ENST00000495436.5:n.655-309C>T
ENST00000538581.5:c.710-54C>T	ENSP00000443200.1:n.710-54C>T
NM_000481.3:c.878-54C>T , LRG_537t1:c.878-54C>T	NP_000472.2:n.878-54C>T
NM_001164710.1:c.746-54C>T	NP_001158182.1:n.746-54C>T
NM_001164711.1:c.710-54C>T	NP_001158183.1:n.710-54C>T
NM_001164712.1:c.878-54C>T	NP_001158184.1:n.878-54C>T
NR_028435.1:n.1092-54C>T
NM_000481.4:c.878-54C>T MANE Select	NP_000472.2:n.878-54C>T
NM_001164710.2:c.746-54C>T	NP_001158182.1:n.746-54C>T
NM_001164711.2:c.710-54C>T	NP_001158183.1:n.710-54C>T
NM_001164712.2:c.878-54C>T	NP_001158184.1:n.878-54C>T
NR_028435.2:n.887-54C>T