Canonical Allele Identifier: CA352789492

Gene: AMT

Linked Data

• MyVariant Identifiers: chr3:g.49455333C>A (hg19) ; chr3:g.49417900C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49417900C>A , CM000665.2:g.49417900C>A	GRCh38
NC_000003.11:g.49455333C>A , CM000665.1:g.49455333C>A	GRCh37
NC_000003.10:g.49430337C>A	NCBI36
NG_015986.1:g.9779G>T , LRG_537:g.9779G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000273588.9:c.951G>T MANE Select	ENSP00000273588.3:p.Gln317His
ENST00000395338.7:c.951G>T	ENSP00000378747.2:p.Gln317His
ENST00000399379.7:c.683G>T	ENSP00000399943.2:n.683G>T
ENST00000427987.6:c.807G>T	ENSP00000403821.2:p.Gln269His
ENST00000465925.6:n.2953G>T
ENST00000473163.2:n.3567G>T
ENST00000476127.6:n.1180G>T
ENST00000476226.6:n.1372G>T
ENST00000478594.6:n.1378G>T
ENST00000493046.6:n.2750-182G>T
ENST00000538581.6:c.807G>T	ENSP00000443200.2:p.Gln269His
ENST00000635772.1:n.1789G>T
ENST00000635798.1:n.392-182G>T
ENST00000635808.1:c.870G>T	ENSP00000489620.1:p.Gln290His
ENST00000635889.1:n.1444G>T
ENST00000635907.1:n.592-182G>T
ENST00000635936.1:n.1219G>T
ENST00000636023.1:c.*124G>T	ENSP00000489969.1:n.*124G>T
ENST00000636070.1:c.*731G>T	ENSP00000490160.1:n.*731G>T
ENST00000636148.1:n.3004G>T
ENST00000636166.1:c.1188G>T	ENSP00000490106.1:p.Gln396His
ENST00000636188.1:c.130G>T
ENST00000636199.1:c.513G>T	ENSP00000490871.1:p.Gln171His
ENST00000636204.1:n.2233G>T
ENST00000636461.1:c.4485G>T
ENST00000636522.1:c.783G>T	ENSP00000489758.1:p.Gln261His
ENST00000636587.1:n.1037G>T
ENST00000636594.1:n.473G>T
ENST00000636597.1:c.551-182G>T	ENSP00000490251.1:n.551-182G>T
ENST00000636725.1:n.1667G>T
ENST00000636803.1:n.1293G>T
ENST00000636865.1:c.795G>T	ENSP00000490601.1:p.Gln265His
ENST00000636871.1:n.1316G>T
ENST00000636978.1:n.1063G>T
ENST00000636991.1:n.1396G>T
ENST00000637059.1:c.403G>T	ENSP00000490153.1:n.403G>T
ENST00000637088.1:n.5763G>T
ENST00000637114.1:n.1051G>T
ENST00000637268.1:n.1852G>T
ENST00000637291.1:n.1685G>T
ENST00000637442.1:n.3172G>T
ENST00000637455.1:c.762G>T	ENSP00000489628.1:p.Gln254His
ENST00000637457.1:n.1812G>T
ENST00000637527.1:n.243G>T
ENST00000637682.1:c.878-182G>T	ENSP00000489856.1:n.878-182G>T
ENST00000637684.1:n.1161G>T
ENST00000637821.1:c.*1228+33G>T	ENSP00000490482.1:n.*1228+33G>T
ENST00000637914.1:n.2845G>T
ENST00000637982.1:n.1365G>T
ENST00000637994.1:n.1491G>T
ENST00000638014.1:c.3732G>T
ENST00000638063.1:c.870G>T	ENSP00000489760.1:p.Gln290His
ENST00000638079.1:c.*1463G>T	ENSP00000490120.1:n.*1463G>T
ENST00000638092.1:n.1471G>T
ENST00000638115.1:c.*2712G>T	ENSP00000490296.1:n.*2712G>T
ENST00000273588.7:c.951G>T	ENSP00000273588.3:p.Gln317His
ENST00000395338.6:c.951G>T	ENSP00000378747.2:p.Gln317His
ENST00000399379.6:c.*731G>T	ENSP00000399943.1:n.*731G>T
ENST00000427987.5:c.943G>T
ENST00000430521.1:c.783G>T	ENSP00000388068.1:p.Gln261His
ENST00000458307.6:c.819G>T	ENSP00000415619.2:p.Gln273His
ENST00000465925.5:n.2249G>T
ENST00000473163.1:n.320G>T
ENST00000476127.5:n.710G>T
ENST00000476226.5:n.1016G>T
ENST00000495436.5:n.655-182G>T
ENST00000538581.5:c.783G>T	ENSP00000443200.1:p.Gln261His
NM_000481.3:c.951G>T , LRG_537t1:c.951G>T	NP_000472.2:p.Gln317His
NM_001164710.1:c.819G>T	NP_001158182.1:p.Gln273His
NM_001164711.1:c.783G>T	NP_001158183.1:p.Gln261His
NM_001164712.1:c.951G>T	NP_001158184.1:p.Gln317His
NR_028435.1:n.1165G>T
NM_000481.4:c.951G>T MANE Select	NP_000472.2:p.Gln317His
NM_001164710.2:c.819G>T	NP_001158182.1:p.Gln273His
NM_001164711.2:c.783G>T	NP_001158183.1:p.Gln261His
NM_001164712.2:c.951G>T	NP_001158184.1:p.Gln317His
NR_028435.2:n.960G>T