Canonical Allele Identifier: CA352791204

Gene: AMT

Linked Data

• ClinVar Variation Id: 565538
• ClinVar RCV Id: RCV000685122
• dbSNP Id: rs1559530507
• MyVariant Identifiers: chr3:g.49459631C>T (hg19) ; chr3:g.49422198C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49422198C>T , CM000665.2:g.49422198C>T	GRCh38
NC_000003.11:g.49459631C>T , CM000665.1:g.49459631C>T	GRCh37
NC_000003.10:g.49434635C>T	NCBI36
NG_015986.1:g.5481G>A , LRG_537:g.5481G>A
NG_033046.1:g.12127G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273588.9:c.164G>A MANE Select	ENSP00000273588.3:p.Trp55Ter
ENST00000395338.7:c.164G>A	ENSP00000378747.2:p.Trp55Ter
ENST00000399379.7:c.60+163G>A	ENSP00000399943.2:n.60+163G>A
ENST00000427987.6:c.20G>A	ENSP00000403821.2:p.Trp7Ter
ENST00000430521.2:c.91-149G>A	ENSP00000388068.2:n.91-149G>A
ENST00000462048.2:c.-101-149G>A	ENSP00000490465.1:n.-101-149G>A
ENST00000465925.6:n.183G>A
ENST00000473163.2:n.266G>A
ENST00000476127.6:n.41G>A
ENST00000476226.6:n.163G>A
ENST00000478594.6:n.169G>A
ENST00000480957.6:n.182G>A
ENST00000485108.6:n.294G>A
ENST00000487589.6:n.77G>A
ENST00000491800.3:n.275G>A
ENST00000493046.6:n.261G>A
ENST00000538581.6:c.20G>A	ENSP00000443200.2:p.Trp7Ter
ENST00000635772.1:n.168G>A
ENST00000635808.1:c.164G>A	ENSP00000489620.1:p.Trp55Ter
ENST00000635889.1:n.173G>A
ENST00000635936.1:n.156G>A
ENST00000636023.1:c.164G>A	ENSP00000489969.1:p.Trp55Ter
ENST00000636070.1:c.91-149G>A	ENSP00000490160.1:n.91-149G>A
ENST00000636148.1:n.234G>A
ENST00000636166.1:c.496-626G>A	ENSP00000490106.1:n.496-626G>A
ENST00000636199.1:c.164G>A	ENSP00000490871.1:p.Trp55Ter
ENST00000636204.1:n.1446G>A
ENST00000636461.1:c.3276G>A
ENST00000636522.1:c.90+163G>A	ENSP00000489758.1:n.90+163G>A
ENST00000636587.1:n.396G>A
ENST00000636597.1:c.164G>A	ENSP00000490251.1:p.Trp55Ter
ENST00000636725.1:n.154G>A
ENST00000636803.1:n.154G>A
ENST00000636865.1:c.20G>A	ENSP00000490601.1:p.Trp7Ter
ENST00000636871.1:n.107G>A
ENST00000636978.1:n.168G>A
ENST00000636991.1:n.187G>A
ENST00000637088.1:n.3719G>A
ENST00000637114.1:n.156G>A
ENST00000637268.1:n.169G>A
ENST00000637291.1:n.172G>A
ENST00000637442.1:n.1659G>A
ENST00000637457.1:n.191G>A
ENST00000637682.1:c.164G>A	ENSP00000489856.1:p.Trp55Ter
ENST00000637684.1:n.266G>A
ENST00000637821.1:c.91-149G>A	ENSP00000490482.1:n.91-149G>A
ENST00000637914.1:n.183G>A
ENST00000637982.1:n.156G>A
ENST00000637994.1:n.174G>A
ENST00000638014.1:c.2945G>A
ENST00000638063.1:c.164G>A	ENSP00000489760.1:p.Trp55Ter
ENST00000638079.1:c.*680G>A	ENSP00000490120.1:n.*680G>A
ENST00000638092.1:n.154G>A
ENST00000638115.1:c.*1925G>A	ENSP00000490296.1:n.*1925G>A
ENST00000273588.7:c.164G>A	ENSP00000273588.3:p.Trp55Ter
ENST00000395338.6:c.164G>A	ENSP00000378747.2:p.Trp55Ter
ENST00000399379.6:c.91-149G>A	ENSP00000399943.1:n.91-149G>A
ENST00000427987.5:c.156G>A
ENST00000430521.1:c.90+163G>A	ENSP00000388068.1:n.90+163G>A
ENST00000458307.6:c.164G>A	ENSP00000415619.2:p.Trp55Ter
ENST00000462048.1:n.248-149G>A
ENST00000476226.5:n.229G>A
ENST00000478594.5:n.158G>A
ENST00000480957.5:n.172G>A
ENST00000485108.5:n.158G>A
ENST00000487589.5:n.266G>A
ENST00000493046.5:n.92-149G>A
ENST00000495436.5:n.254G>A
ENST00000498571.1:n.162G>A
ENST00000538581.5:c.90+163G>A	ENSP00000443200.1:n.90+163G>A
NM_000481.3:c.164G>A , LRG_537t1:c.164G>A	NP_000472.2:p.Trp55Ter
NM_001164710.1:c.164G>A	NP_001158182.1:p.Trp55Ter
NM_001164711.1:c.90+163G>A	NP_001158183.1:n.90+163G>A
NM_001164712.1:c.164G>A	NP_001158184.1:p.Trp55Ter
NR_028435.1:n.378G>A
NM_000481.4:c.164G>A MANE Select	NP_000472.2:p.Trp55Ter
NM_001164710.2:c.164G>A	NP_001158182.1:p.Trp55Ter
NM_001164711.2:c.90+163G>A	NP_001158183.1:n.90+163G>A
NM_001164712.2:c.164G>A	NP_001158184.1:p.Trp55Ter
NR_028435.2:n.173G>A