Canonical Allele Identifier: CA352789482

Gene: AMT

Linked Data

• gnomAD v4: 3-49417894-C-G
• MyVariant Identifiers: chr3:g.49455327C>G (hg19) ; chr3:g.49417894C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49417894C>G , CM000665.2:g.49417894C>G	GRCh38
NC_000003.11:g.49455327C>G , CM000665.1:g.49455327C>G	GRCh37
NC_000003.10:g.49430331C>G	NCBI36
NG_015986.1:g.9785G>C , LRG_537:g.9785G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273588.9:c.957G>C MANE Select	ENSP00000273588.3:p.Arg319Ser
ENST00000395338.7:c.957G>C	ENSP00000378747.2:p.Arg319Ser
ENST00000399379.7:c.689G>C	ENSP00000399943.2:n.689G>C
ENST00000427987.6:c.813G>C	ENSP00000403821.2:p.Arg271Ser
ENST00000465925.6:n.2959G>C
ENST00000473163.2:n.3573G>C
ENST00000476127.6:n.1186G>C
ENST00000476226.6:n.1378G>C
ENST00000478594.6:n.1384G>C
ENST00000493046.6:n.2750-176G>C
ENST00000538581.6:c.813G>C	ENSP00000443200.2:p.Arg271Ser
ENST00000635772.1:n.1795G>C
ENST00000635798.1:n.392-176G>C
ENST00000635808.1:c.876G>C	ENSP00000489620.1:p.Arg292Ser
ENST00000635889.1:n.1450G>C
ENST00000635907.1:n.592-176G>C
ENST00000635936.1:n.1225G>C
ENST00000636023.1:c.*130G>C	ENSP00000489969.1:n.*130G>C
ENST00000636070.1:c.*737G>C	ENSP00000490160.1:n.*737G>C
ENST00000636148.1:n.3010G>C
ENST00000636166.1:c.1194G>C	ENSP00000490106.1:p.Arg398Ser
ENST00000636188.1:c.136G>C
ENST00000636199.1:c.519G>C	ENSP00000490871.1:p.Arg173Ser
ENST00000636204.1:n.2239G>C
ENST00000636461.1:c.4491G>C
ENST00000636522.1:c.789G>C	ENSP00000489758.1:p.Arg263Ser
ENST00000636587.1:n.1043G>C
ENST00000636594.1:n.479G>C
ENST00000636597.1:c.551-176G>C	ENSP00000490251.1:n.551-176G>C
ENST00000636725.1:n.1673G>C
ENST00000636803.1:n.1299G>C
ENST00000636865.1:c.801G>C	ENSP00000490601.1:p.Arg267Ser
ENST00000636871.1:n.1322G>C
ENST00000636978.1:n.1069G>C
ENST00000636991.1:n.1402G>C
ENST00000637059.1:c.409G>C	ENSP00000490153.1:n.409G>C
ENST00000637088.1:n.5769G>C
ENST00000637114.1:n.1057G>C
ENST00000637268.1:n.1858G>C
ENST00000637291.1:n.1691G>C
ENST00000637442.1:n.3178G>C
ENST00000637455.1:c.768G>C	ENSP00000489628.1:p.Arg256Ser
ENST00000637457.1:n.1818G>C
ENST00000637527.1:n.249G>C
ENST00000637682.1:c.878-176G>C	ENSP00000489856.1:n.878-176G>C
ENST00000637684.1:n.1167G>C
ENST00000637821.1:c.*1228+39G>C	ENSP00000490482.1:n.*1228+39G>C
ENST00000637914.1:n.2851G>C
ENST00000637982.1:n.1371G>C
ENST00000637994.1:n.1497G>C
ENST00000638014.1:c.3738G>C
ENST00000638063.1:c.876G>C	ENSP00000489760.1:p.Arg292Ser
ENST00000638079.1:c.*1469G>C	ENSP00000490120.1:n.*1469G>C
ENST00000638092.1:n.1477G>C
ENST00000638115.1:c.*2718G>C	ENSP00000490296.1:n.*2718G>C
ENST00000273588.7:c.957G>C	ENSP00000273588.3:p.Arg319Ser
ENST00000395338.6:c.957G>C	ENSP00000378747.2:p.Arg319Ser
ENST00000399379.6:c.*737G>C	ENSP00000399943.1:n.*737G>C
ENST00000427987.5:c.949G>C
ENST00000458307.6:c.825G>C	ENSP00000415619.2:p.Arg275Ser
ENST00000465925.5:n.2255G>C
ENST00000473163.1:n.326G>C
ENST00000476127.5:n.716G>C
ENST00000476226.5:n.1022G>C
ENST00000495436.5:n.655-176G>C
ENST00000538581.5:c.789G>C	ENSP00000443200.1:p.Arg263Ser
NM_000481.3:c.957G>C , LRG_537t1:c.957G>C	NP_000472.2:p.Arg319Ser
NM_001164710.1:c.825G>C	NP_001158182.1:p.Arg275Ser
NM_001164711.1:c.789G>C	NP_001158183.1:p.Arg263Ser
NM_001164712.1:c.957G>C	NP_001158184.1:p.Arg319Ser
NR_028435.1:n.1171G>C
NM_000481.4:c.957G>C MANE Select	NP_000472.2:p.Arg319Ser
NM_001164710.2:c.825G>C	NP_001158182.1:p.Arg275Ser
NM_001164711.2:c.789G>C	NP_001158183.1:p.Arg263Ser
NM_001164712.2:c.957G>C	NP_001158184.1:p.Arg319Ser
NR_028435.2:n.966G>C