Canonical Allele Identifier: CA352789279

Gene: AMT

Linked Data

• MyVariant Identifiers: chr3:g.49455251C>T (hg19) ; chr3:g.49417818C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49417818C>T , CM000665.2:g.49417818C>T	GRCh38
NC_000003.11:g.49455251C>T , CM000665.1:g.49455251C>T	GRCh37
NC_000003.10:g.49430255C>T	NCBI36
NG_015986.1:g.9861G>A , LRG_537:g.9861G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273588.9:c.1033G>A MANE Select	ENSP00000273588.3:p.Gly345Ser
ENST00000395338.7:c.1033G>A	ENSP00000378747.2:p.Gly345Ser
ENST00000399379.7:c.765G>A	ENSP00000399943.2:n.765G>A
ENST00000427987.6:c.889G>A	ENSP00000403821.2:p.Gly297Ser
ENST00000465925.6:n.3035G>A
ENST00000473163.2:n.3649G>A
ENST00000476127.6:n.1262G>A
ENST00000476226.6:n.1454G>A
ENST00000478594.6:n.1460G>A
ENST00000493046.6:n.2750-100G>A
ENST00000538581.6:c.889G>A	ENSP00000443200.2:p.Gly297Ser
ENST00000635772.1:n.1871G>A
ENST00000635798.1:n.392-100G>A
ENST00000635808.1:c.952G>A	ENSP00000489620.1:p.Gly318Ser
ENST00000635889.1:n.1526G>A
ENST00000635907.1:n.592-100G>A
ENST00000635936.1:n.1301G>A
ENST00000636023.1:c.*206G>A	ENSP00000489969.1:n.*206G>A
ENST00000636070.1:c.*813G>A	ENSP00000490160.1:n.*813G>A
ENST00000636148.1:n.3086G>A
ENST00000636166.1:c.1270G>A	ENSP00000490106.1:p.Gly424Ser
ENST00000636188.1:c.212G>A
ENST00000636199.1:c.595G>A	ENSP00000490871.1:p.Gly199Ser
ENST00000636204.1:n.2315G>A
ENST00000636461.1:c.4567G>A
ENST00000636522.1:c.865G>A	ENSP00000489758.1:p.Gly289Ser
ENST00000636587.1:n.1119G>A
ENST00000636594.1:n.555G>A
ENST00000636597.1:c.551-100G>A	ENSP00000490251.1:n.551-100G>A
ENST00000636725.1:n.1749G>A
ENST00000636803.1:n.1375G>A
ENST00000636865.1:c.877G>A	ENSP00000490601.1:p.Gly293Ser
ENST00000636871.1:n.1398G>A
ENST00000636978.1:n.1145G>A
ENST00000636991.1:n.1478G>A
ENST00000637059.1:c.485G>A	ENSP00000490153.1:n.485G>A
ENST00000637088.1:n.5845G>A
ENST00000637114.1:n.1133G>A
ENST00000637268.1:n.1934G>A
ENST00000637291.1:n.1767G>A
ENST00000637442.1:n.3254G>A
ENST00000637455.1:c.844G>A	ENSP00000489628.1:p.Gly282Ser
ENST00000637457.1:n.1894G>A
ENST00000637527.1:n.325G>A
ENST00000637682.1:c.878-100G>A	ENSP00000489856.1:n.878-100G>A
ENST00000637684.1:n.1243G>A
ENST00000637821.1:c.*1229-100G>A	ENSP00000490482.1:n.*1229-100G>A
ENST00000637914.1:n.2927G>A
ENST00000637982.1:n.1447G>A
ENST00000637994.1:n.1573G>A
ENST00000638014.1:c.3814G>A
ENST00000638063.1:c.952G>A	ENSP00000489760.1:p.Gly318Ser
ENST00000638079.1:c.*1545G>A	ENSP00000490120.1:n.*1545G>A
ENST00000638092.1:n.1553G>A
ENST00000638115.1:c.*2794G>A	ENSP00000490296.1:n.*2794G>A
ENST00000273588.7:c.1033G>A	ENSP00000273588.3:p.Gly345Ser
ENST00000395338.6:c.1033G>A	ENSP00000378747.2:p.Gly345Ser
ENST00000399379.6:c.*813G>A	ENSP00000399943.1:n.*813G>A
ENST00000427987.5:c.1025G>A
ENST00000458307.6:c.901G>A	ENSP00000415619.2:p.Gly301Ser
ENST00000465925.5:n.2331G>A
ENST00000473163.1:n.402G>A
ENST00000476127.5:n.792G>A
ENST00000476226.5:n.1098G>A
ENST00000495436.5:n.655-100G>A
ENST00000538581.5:c.865G>A	ENSP00000443200.1:p.Gly289Ser
NM_000481.3:c.1033G>A , LRG_537t1:c.1033G>A	NP_000472.2:p.Gly345Ser
NM_001164710.1:c.901G>A	NP_001158182.1:p.Gly301Ser
NM_001164711.1:c.865G>A	NP_001158183.1:p.Gly289Ser
NM_001164712.1:c.1033G>A	NP_001158184.1:p.Gly345Ser
NR_028435.1:n.1247G>A
NM_000481.4:c.1033G>A MANE Select	NP_000472.2:p.Gly345Ser
NM_001164710.2:c.901G>A	NP_001158182.1:p.Gly301Ser
NM_001164711.2:c.865G>A	NP_001158183.1:p.Gly289Ser
NM_001164712.2:c.1033G>A	NP_001158184.1:p.Gly345Ser
NR_028435.2:n.1042G>A