Canonical Allele Identifier: CA352789493

Gene: AMT

Linked Data

• MyVariant Identifiers: chr3:g.49455334T>A (hg19) ; chr3:g.49417901T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49417901T>A , CM000665.2:g.49417901T>A	GRCh38
NC_000003.11:g.49455334T>A , CM000665.1:g.49455334T>A	GRCh37
NC_000003.10:g.49430338T>A	NCBI36
NG_015986.1:g.9778A>T , LRG_537:g.9778A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273588.9:c.950A>T MANE Select	ENSP00000273588.3:p.Gln317Leu
ENST00000395338.7:c.950A>T	ENSP00000378747.2:p.Gln317Leu
ENST00000399379.7:c.682A>T	ENSP00000399943.2:n.682A>T
ENST00000427987.6:c.806A>T	ENSP00000403821.2:p.Gln269Leu
ENST00000465925.6:n.2952A>T
ENST00000473163.2:n.3566A>T
ENST00000476127.6:n.1179A>T
ENST00000476226.6:n.1371A>T
ENST00000478594.6:n.1377A>T
ENST00000493046.6:n.2750-183A>T
ENST00000538581.6:c.806A>T	ENSP00000443200.2:p.Gln269Leu
ENST00000635772.1:n.1788A>T
ENST00000635798.1:n.392-183A>T
ENST00000635808.1:c.869A>T	ENSP00000489620.1:p.Gln290Leu
ENST00000635889.1:n.1443A>T
ENST00000635907.1:n.592-183A>T
ENST00000635936.1:n.1218A>T
ENST00000636023.1:c.*123A>T	ENSP00000489969.1:n.*123A>T
ENST00000636070.1:c.*730A>T	ENSP00000490160.1:n.*730A>T
ENST00000636148.1:n.3003A>T
ENST00000636166.1:c.1187A>T	ENSP00000490106.1:p.Gln396Leu
ENST00000636188.1:c.129A>T
ENST00000636199.1:c.512A>T	ENSP00000490871.1:p.Gln171Leu
ENST00000636204.1:n.2232A>T
ENST00000636461.1:c.4484A>T
ENST00000636522.1:c.782A>T	ENSP00000489758.1:p.Gln261Leu
ENST00000636587.1:n.1036A>T
ENST00000636594.1:n.472A>T
ENST00000636597.1:c.551-183A>T	ENSP00000490251.1:n.551-183A>T
ENST00000636725.1:n.1666A>T
ENST00000636803.1:n.1292A>T
ENST00000636865.1:c.794A>T	ENSP00000490601.1:p.Gln265Leu
ENST00000636871.1:n.1315A>T
ENST00000636978.1:n.1062A>T
ENST00000636991.1:n.1395A>T
ENST00000637059.1:c.402A>T	ENSP00000490153.1:n.402A>T
ENST00000637088.1:n.5762A>T
ENST00000637114.1:n.1050A>T
ENST00000637268.1:n.1851A>T
ENST00000637291.1:n.1684A>T
ENST00000637442.1:n.3171A>T
ENST00000637455.1:c.761A>T	ENSP00000489628.1:p.Gln254Leu
ENST00000637457.1:n.1811A>T
ENST00000637527.1:n.242A>T
ENST00000637682.1:c.878-183A>T	ENSP00000489856.1:n.878-183A>T
ENST00000637684.1:n.1160A>T
ENST00000637821.1:c.*1228+32A>T	ENSP00000490482.1:n.*1228+32A>T
ENST00000637914.1:n.2844A>T
ENST00000637982.1:n.1364A>T
ENST00000637994.1:n.1490A>T
ENST00000638014.1:c.3731A>T
ENST00000638063.1:c.869A>T	ENSP00000489760.1:p.Gln290Leu
ENST00000638079.1:c.*1462A>T	ENSP00000490120.1:n.*1462A>T
ENST00000638092.1:n.1470A>T
ENST00000638115.1:c.*2711A>T	ENSP00000490296.1:n.*2711A>T
ENST00000273588.7:c.950A>T	ENSP00000273588.3:p.Gln317Leu
ENST00000395338.6:c.950A>T	ENSP00000378747.2:p.Gln317Leu
ENST00000399379.6:c.*730A>T	ENSP00000399943.1:n.*730A>T
ENST00000427987.5:c.942A>T
ENST00000430521.1:c.782A>T	ENSP00000388068.1:p.Gln261Leu
ENST00000458307.6:c.818A>T	ENSP00000415619.2:p.Gln273Leu
ENST00000465925.5:n.2248A>T
ENST00000473163.1:n.319A>T
ENST00000476127.5:n.709A>T
ENST00000476226.5:n.1015A>T
ENST00000495436.5:n.655-183A>T
ENST00000538581.5:c.782A>T	ENSP00000443200.1:p.Gln261Leu
NM_000481.3:c.950A>T , LRG_537t1:c.950A>T	NP_000472.2:p.Gln317Leu
NM_001164710.1:c.818A>T	NP_001158182.1:p.Gln273Leu
NM_001164711.1:c.782A>T	NP_001158183.1:p.Gln261Leu
NM_001164712.1:c.950A>T	NP_001158184.1:p.Gln317Leu
NR_028435.1:n.1164A>T
NM_000481.4:c.950A>T MANE Select	NP_000472.2:p.Gln317Leu
NM_001164710.2:c.818A>T	NP_001158182.1:p.Gln273Leu
NM_001164711.2:c.782A>T	NP_001158183.1:p.Gln261Leu
NM_001164712.2:c.950A>T	NP_001158184.1:p.Gln317Leu
NR_028435.2:n.959A>T