Canonical Allele Identifier: CA352789638

Gene: AMT

Linked Data

• MyVariant Identifiers: chr3:g.49455406C>A (hg19) ; chr3:g.49417973C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49417973C>A , CM000665.2:g.49417973C>A	GRCh38
NC_000003.11:g.49455406C>A , CM000665.1:g.49455406C>A	GRCh37
NC_000003.10:g.49430410C>A	NCBI36
NG_015986.1:g.9706G>T , LRG_537:g.9706G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273588.9:c.878G>T MANE Select	ENSP00000273588.3:p.Gly293Val
ENST00000395338.7:c.878G>T	ENSP00000378747.2:p.Gly293Val
ENST00000399379.7:c.610G>T	ENSP00000399943.2:n.610G>T
ENST00000427987.6:c.734G>T	ENSP00000403821.2:p.Gly245Val
ENST00000465925.6:n.2880G>T
ENST00000473163.2:n.3494G>T
ENST00000476127.6:n.1107G>T
ENST00000476226.6:n.1299G>T
ENST00000478594.6:n.1305G>T
ENST00000493046.6:n.2750-255G>T
ENST00000538581.6:c.734G>T	ENSP00000443200.2:p.Gly245Val
ENST00000635772.1:n.1716G>T
ENST00000635798.1:n.392-255G>T
ENST00000635808.1:c.797G>T	ENSP00000489620.1:p.Gly266Val
ENST00000635889.1:n.1371G>T
ENST00000635907.1:n.592-255G>T
ENST00000635936.1:n.1146G>T
ENST00000636023.1:c.*51G>T	ENSP00000489969.1:n.*51G>T
ENST00000636070.1:c.*658G>T	ENSP00000490160.1:n.*658G>T
ENST00000636148.1:n.2931G>T
ENST00000636166.1:c.1115G>T	ENSP00000490106.1:p.Gly372Val
ENST00000636188.1:c.57G>T
ENST00000636199.1:c.440G>T	ENSP00000490871.1:p.Gly147Val
ENST00000636204.1:n.2160G>T
ENST00000636461.1:c.4412G>T
ENST00000636522.1:c.710G>T	ENSP00000489758.1:p.Gly237Val
ENST00000636587.1:n.964G>T
ENST00000636594.1:n.400G>T
ENST00000636597.1:c.551-255G>T	ENSP00000490251.1:n.551-255G>T
ENST00000636725.1:n.1594G>T
ENST00000636803.1:n.1220G>T
ENST00000636865.1:c.722G>T	ENSP00000490601.1:p.Gly241Val
ENST00000636871.1:n.1243G>T
ENST00000636978.1:n.990G>T
ENST00000636991.1:n.1323G>T
ENST00000637059.1:c.330G>T	ENSP00000490153.1:n.330G>T
ENST00000637088.1:n.5690G>T
ENST00000637114.1:n.978G>T
ENST00000637268.1:n.1779G>T
ENST00000637291.1:n.1612G>T
ENST00000637442.1:n.3099G>T
ENST00000637455.1:c.689G>T	ENSP00000489628.1:p.Gly230Val
ENST00000637457.1:n.1739G>T
ENST00000637527.1:n.170G>T
ENST00000637682.1:c.878-255G>T	ENSP00000489856.1:n.878-255G>T
ENST00000637684.1:n.1088G>T
ENST00000637821.1:c.*1188G>T	ENSP00000490482.1:n.*1188G>T
ENST00000637914.1:n.2772G>T
ENST00000637982.1:n.1292G>T
ENST00000637994.1:n.1418G>T
ENST00000638014.1:c.3659G>T
ENST00000638063.1:c.797G>T	ENSP00000489760.1:p.Gly266Val
ENST00000638079.1:c.*1390G>T	ENSP00000490120.1:n.*1390G>T
ENST00000638092.1:n.1398G>T
ENST00000638115.1:c.*2639G>T	ENSP00000490296.1:n.*2639G>T
ENST00000273588.7:c.878G>T	ENSP00000273588.3:p.Gly293Val
ENST00000395338.6:c.878G>T	ENSP00000378747.2:p.Gly293Val
ENST00000399379.6:c.*658G>T	ENSP00000399943.1:n.*658G>T
ENST00000427987.5:c.870G>T
ENST00000430521.1:c.710G>T	ENSP00000388068.1:p.Gly237Val
ENST00000458307.6:c.746G>T	ENSP00000415619.2:p.Gly249Val
ENST00000465925.5:n.2176G>T
ENST00000473163.1:n.247G>T
ENST00000476127.5:n.637G>T
ENST00000476226.5:n.943G>T
ENST00000495436.5:n.655-255G>T
ENST00000538581.5:c.710G>T	ENSP00000443200.1:p.Gly237Val
NM_000481.3:c.878G>T , LRG_537t1:c.878G>T	NP_000472.2:p.Gly293Val
NM_001164710.1:c.746G>T	NP_001158182.1:p.Gly249Val
NM_001164711.1:c.710G>T	NP_001158183.1:p.Gly237Val
NM_001164712.1:c.878G>T	NP_001158184.1:p.Gly293Val
NR_028435.1:n.1092G>T
NM_000481.4:c.878G>T MANE Select	NP_000472.2:p.Gly293Val
NM_001164710.2:c.746G>T	NP_001158182.1:p.Gly249Val
NM_001164711.2:c.710G>T	NP_001158183.1:p.Gly237Val
NM_001164712.2:c.878G>T	NP_001158184.1:p.Gly293Val
NR_028435.2:n.887G>T