Canonical Allele Identifier: CA352789626

Gene: AMT

Linked Data

• MyVariant Identifiers: chr3:g.49455400C>G (hg19) ; chr3:g.49417967C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49417967C>G , CM000665.2:g.49417967C>G	GRCh38
NC_000003.11:g.49455400C>G , CM000665.1:g.49455400C>G	GRCh37
NC_000003.10:g.49430404C>G	NCBI36
NG_015986.1:g.9712G>C , LRG_537:g.9712G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273588.9:c.884G>C MANE Select	ENSP00000273588.3:p.Arg295Pro
ENST00000395338.7:c.884G>C	ENSP00000378747.2:p.Arg295Pro
ENST00000399379.7:c.616G>C	ENSP00000399943.2:n.616G>C
ENST00000427987.6:c.740G>C	ENSP00000403821.2:p.Arg247Pro
ENST00000465925.6:n.2886G>C
ENST00000473163.2:n.3500G>C
ENST00000476127.6:n.1113G>C
ENST00000476226.6:n.1305G>C
ENST00000478594.6:n.1311G>C
ENST00000493046.6:n.2750-249G>C
ENST00000538581.6:c.740G>C	ENSP00000443200.2:p.Arg247Pro
ENST00000635772.1:n.1722G>C
ENST00000635798.1:n.392-249G>C
ENST00000635808.1:c.803G>C	ENSP00000489620.1:p.Arg268Pro
ENST00000635889.1:n.1377G>C
ENST00000635907.1:n.592-249G>C
ENST00000635936.1:n.1152G>C
ENST00000636023.1:c.*57G>C	ENSP00000489969.1:n.*57G>C
ENST00000636070.1:c.*664G>C	ENSP00000490160.1:n.*664G>C
ENST00000636148.1:n.2937G>C
ENST00000636166.1:c.1121G>C	ENSP00000490106.1:p.Arg374Pro
ENST00000636188.1:c.63G>C
ENST00000636199.1:c.446G>C	ENSP00000490871.1:p.Arg149Pro
ENST00000636204.1:n.2166G>C
ENST00000636461.1:c.4418G>C
ENST00000636522.1:c.716G>C	ENSP00000489758.1:p.Arg239Pro
ENST00000636587.1:n.970G>C
ENST00000636594.1:n.406G>C
ENST00000636597.1:c.551-249G>C	ENSP00000490251.1:n.551-249G>C
ENST00000636725.1:n.1600G>C
ENST00000636803.1:n.1226G>C
ENST00000636865.1:c.728G>C	ENSP00000490601.1:p.Arg243Pro
ENST00000636871.1:n.1249G>C
ENST00000636978.1:n.996G>C
ENST00000636991.1:n.1329G>C
ENST00000637059.1:c.336G>C	ENSP00000490153.1:n.336G>C
ENST00000637088.1:n.5696G>C
ENST00000637114.1:n.984G>C
ENST00000637268.1:n.1785G>C
ENST00000637291.1:n.1618G>C
ENST00000637442.1:n.3105G>C
ENST00000637455.1:c.695G>C	ENSP00000489628.1:p.Arg232Pro
ENST00000637457.1:n.1745G>C
ENST00000637527.1:n.176G>C
ENST00000637682.1:c.878-249G>C	ENSP00000489856.1:n.878-249G>C
ENST00000637684.1:n.1094G>C
ENST00000637821.1:c.*1194G>C	ENSP00000490482.1:n.*1194G>C
ENST00000637914.1:n.2778G>C
ENST00000637982.1:n.1298G>C
ENST00000637994.1:n.1424G>C
ENST00000638014.1:c.3665G>C
ENST00000638063.1:c.803G>C	ENSP00000489760.1:p.Arg268Pro
ENST00000638079.1:c.*1396G>C	ENSP00000490120.1:n.*1396G>C
ENST00000638092.1:n.1404G>C
ENST00000638115.1:c.*2645G>C	ENSP00000490296.1:n.*2645G>C
ENST00000273588.7:c.884G>C	ENSP00000273588.3:p.Arg295Pro
ENST00000395338.6:c.884G>C	ENSP00000378747.2:p.Arg295Pro
ENST00000399379.6:c.*664G>C	ENSP00000399943.1:n.*664G>C
ENST00000427987.5:c.876G>C
ENST00000430521.1:c.716G>C	ENSP00000388068.1:p.Arg239Pro
ENST00000458307.6:c.752G>C	ENSP00000415619.2:p.Arg251Pro
ENST00000465925.5:n.2182G>C
ENST00000473163.1:n.253G>C
ENST00000476127.5:n.643G>C
ENST00000476226.5:n.949G>C
ENST00000495436.5:n.655-249G>C
ENST00000538581.5:c.716G>C	ENSP00000443200.1:p.Arg239Pro
NM_000481.3:c.884G>C , LRG_537t1:c.884G>C	NP_000472.2:p.Arg295Pro
NM_001164710.1:c.752G>C	NP_001158182.1:p.Arg251Pro
NM_001164711.1:c.716G>C	NP_001158183.1:p.Arg239Pro
NM_001164712.1:c.884G>C	NP_001158184.1:p.Arg295Pro
NR_028435.1:n.1098G>C
NM_000481.4:c.884G>C MANE Select	NP_000472.2:p.Arg295Pro
NM_001164710.2:c.752G>C	NP_001158182.1:p.Arg251Pro
NM_001164711.2:c.716G>C	NP_001158183.1:p.Arg239Pro
NM_001164712.2:c.884G>C	NP_001158184.1:p.Arg295Pro
NR_028435.2:n.893G>C