Canonical Allele Identifier: CA2577770609

Gene: AMT

Linked Data

• gnomAD v4: 3-49418039-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49418039G>A , CM000665.2:g.49418039G>A	GRCh38
NC_000003.11:g.49455472G>A , CM000665.1:g.49455472G>A	GRCh37
NC_000003.10:g.49430476G>A	NCBI36
NG_015986.1:g.9640C>T , LRG_537:g.9640C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273588.9:c.878-66C>T MANE Select	ENSP00000273588.3:n.878-66C>T
ENST00000395338.7:c.878-66C>T	ENSP00000378747.2:n.878-66C>T
ENST00000399379.7:c.610-66C>T	ENSP00000399943.2:n.610-66C>T
ENST00000427987.6:c.734-66C>T	ENSP00000403821.2:n.734-66C>T
ENST00000465925.6:n.2880-66C>T
ENST00000473163.2:n.3494-66C>T
ENST00000476127.6:n.1107-66C>T
ENST00000476226.6:n.1299-66C>T
ENST00000478594.6:n.1305-66C>T
ENST00000493046.6:n.2750-321C>T
ENST00000538581.6:c.734-66C>T	ENSP00000443200.2:n.734-66C>T
ENST00000635772.1:n.1716-66C>T
ENST00000635798.1:n.392-321C>T
ENST00000635808.1:c.797-66C>T	ENSP00000489620.1:n.797-66C>T
ENST00000635889.1:n.1371-66C>T
ENST00000635907.1:n.592-321C>T
ENST00000635936.1:n.1146-66C>T
ENST00000636023.1:c.*51-66C>T	ENSP00000489969.1:n.*51-66C>T
ENST00000636070.1:c.*658-66C>T	ENSP00000490160.1:n.*658-66C>T
ENST00000636148.1:n.2931-66C>T
ENST00000636166.1:c.1115-66C>T	ENSP00000490106.1:n.1115-66C>T
ENST00000636188.1:c.57-66C>T
ENST00000636199.1:c.440-66C>T	ENSP00000490871.1:n.440-66C>T
ENST00000636204.1:n.2160-66C>T
ENST00000636461.1:c.4412-66C>T
ENST00000636522.1:c.710-66C>T	ENSP00000489758.1:n.710-66C>T
ENST00000636587.1:n.964-66C>T
ENST00000636594.1:n.334C>T
ENST00000636597.1:c.551-321C>T	ENSP00000490251.1:n.551-321C>T
ENST00000636725.1:n.1594-66C>T
ENST00000636803.1:n.1220-66C>T
ENST00000636865.1:c.722-66C>T	ENSP00000490601.1:n.722-66C>T
ENST00000636871.1:n.1243-66C>T
ENST00000636978.1:n.990-66C>T
ENST00000636991.1:n.1323-66C>T
ENST00000637059.1:c.330-66C>T	ENSP00000490153.1:n.330-66C>T
ENST00000637088.1:n.5690-66C>T
ENST00000637114.1:n.978-66C>T
ENST00000637268.1:n.1779-66C>T
ENST00000637291.1:n.1612-66C>T
ENST00000637442.1:n.3099-66C>T
ENST00000637455.1:c.689-66C>T	ENSP00000489628.1:n.689-66C>T
ENST00000637457.1:n.1739-66C>T
ENST00000637527.1:n.104C>T
ENST00000637682.1:c.878-321C>T	ENSP00000489856.1:n.878-321C>T
ENST00000637684.1:n.1088-66C>T
ENST00000637821.1:c.*1188-66C>T	ENSP00000490482.1:n.*1188-66C>T
ENST00000637914.1:n.2772-66C>T
ENST00000637982.1:n.1292-66C>T
ENST00000637994.1:n.1418-66C>T
ENST00000638014.1:c.3659-66C>T
ENST00000638063.1:c.797-66C>T	ENSP00000489760.1:n.797-66C>T
ENST00000638079.1:c.*1390-66C>T	ENSP00000490120.1:n.*1390-66C>T
ENST00000638092.1:n.1398-66C>T
ENST00000638115.1:c.*2639-66C>T	ENSP00000490296.1:n.*2639-66C>T
ENST00000273588.7:c.878-66C>T	ENSP00000273588.3:n.878-66C>T
ENST00000395338.6:c.878-66C>T	ENSP00000378747.2:n.878-66C>T
ENST00000399379.6:c.*658-66C>T	ENSP00000399943.1:n.*658-66C>T
ENST00000427987.5:c.870-66C>T
ENST00000430521.1:c.710-66C>T	ENSP00000388068.1:n.710-66C>T
ENST00000458307.6:c.746-66C>T	ENSP00000415619.2:n.746-66C>T
ENST00000465925.5:n.2176-66C>T
ENST00000473163.1:n.247-66C>T
ENST00000476127.5:n.637-66C>T
ENST00000476226.5:n.943-66C>T
ENST00000495436.5:n.655-321C>T
ENST00000538581.5:c.710-66C>T	ENSP00000443200.1:n.710-66C>T
NM_000481.3:c.878-66C>T , LRG_537t1:c.878-66C>T	NP_000472.2:n.878-66C>T
NM_001164710.1:c.746-66C>T	NP_001158182.1:n.746-66C>T
NM_001164711.1:c.710-66C>T	NP_001158183.1:n.710-66C>T
NM_001164712.1:c.878-66C>T	NP_001158184.1:n.878-66C>T
NR_028435.1:n.1092-66C>T
NM_000481.4:c.878-66C>T MANE Select	NP_000472.2:n.878-66C>T
NM_001164710.2:c.746-66C>T	NP_001158182.1:n.746-66C>T
NM_001164711.2:c.710-66C>T	NP_001158183.1:n.710-66C>T
NM_001164712.2:c.878-66C>T	NP_001158184.1:n.878-66C>T
NR_028435.2:n.887-66C>T