Canonical Allele Identifier: CA256141
Gene: AMT HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 11974
ClinVar RCV Id: RCV000012754
dbSNP Id: rs121964981

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49419042C>T , CM000665.2:g.49419042C>T GRCh38
NC_000003.10:g.49431479C>T NCBI36
NC_000003.11:g.49456475C>T , CM000665.1:g.49456475C>T GRCh37
NG_015986.1:g.8637G>A , LRG_537:g.8637G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000273588.7:c.806G>A ENSP00000273588.3:p.Gly269Asp
ENST00000395338.6:c.806G>A ENSP00000378747.2:p.Gly269Asp
ENST00000399379.6:c.*586G>A ENSP00000399943.1:p.=
ENST00000427987.5:n.798G>A
ENST00000430521.1:c.638G>A ENSP00000388068.1:p.Gly213Asp
ENST00000458307.6:c.674G>A ENSP00000415619.2:p.Gly225Asp
ENST00000465925.5:n.2104G>A
ENST00000473163.1:n.175G>A
ENST00000476127.5:n.565G>A
ENST00000476226.5:n.871G>A
ENST00000491800.2:n.364G>A
ENST00000495436.5:n.654+218G>A
ENST00000538581.5:c.638G>A ENSP00000443200.1:p.Gly213Asp
NM_000481.3:c.806G>A , LRG_537t1:c.806G>A NP_000472.2:p.Gly269Asp
NM_001164710.1:c.674G>A VV NP_001158182.1:p.Gly225Asp
NM_001164711.1:c.638G>A VV NP_001158183.1:p.Gly213Asp
NM_001164712.1:c.806G>A VV NP_001158184.1:p.Gly269Asp
NR_028435.1:n.1020G>A