Canonical Allele Identifier: CA5564137

Gene: ADK

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.74708368C>T , CM000672.2:g.74708368C>T	GRCh38
NC_000010.10:g.76468126C>T , CM000672.1:g.76468126C>T	GRCh37
NC_000010.9:g.76138132C>T	NCBI36
NG_030484.1:g.562184C>T
NG_030484.2:g.562184C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006721.4:c.1012C>T MANE Select	NP_006712.2:p.Arg338Cys
ENST00000539909.6:c.1012C>T MANE Select	ENSP00000443965.2:p.Arg338Cys
NM_001123.3:c.961C>T	NP_001114.2:p.Arg321Cys
NM_001123.4:c.961C>T	NP_001114.2:p.Arg321Cys
NM_001202449.1:c.907C>T	NP_001189378.1:p.Arg303Cys
NM_001202449.2:c.907C>T	NP_001189378.1:p.Arg303Cys
NM_001202450.1:c.841C>T	NP_001189379.1:p.Arg281Cys
NM_001202450.2:c.841C>T	NP_001189379.1:p.Arg281Cys
NM_001369123.1:c.*12C>T	NP_001356052.1:n.*12C>T
NM_001369124.1:c.790C>T	NP_001356053.1:p.Arg264Cys
NM_006721.3:c.1012C>T	NP_006712.2:p.Arg338Cys
ENST00000286621.6:c.1012C>T	ENSP00000286621.2:p.Arg338Cys
ENST00000286621.7:c.*71C>T	ENSP00000286621.3:n.*71C>T
ENST00000372734.3:c.961C>T	ENSP00000361819.3:p.Arg321Cys
ENST00000372734.5:c.961C>T	ENSP00000361819.3:p.Arg321Cys
ENST00000539909.5:c.841C>T	ENSP00000443965.1:p.Arg281Cys
ENST00000541550.5:c.907C>T	ENSP00000438321.1:p.Arg303Cys
ENST00000541550.6:c.*12C>T	ENSP00000438321.2:n.*12C>T
ENST00000672394.1:c.736C>T	ENSP00000500390.1:p.Arg246Cys
ENST00000672429.1:c.841C>T	ENSP00000500292.1:p.Arg281Cys
ENST00000672604.1:c.550C>T
ENST00000672920.1:c.*757C>T	ENSP00000500141.1:n.*757C>T
ENST00000673027.1:c.907C>T	ENSP00000500201.1:p.Arg303Cys
ENST00000673310.1:c.*605C>T	ENSP00000500097.1:n.*605C>T
ENST00000673352.1:c.*12C>T	ENSP00000500056.1:n.*12C>T
XM_011539297.1:c.928C>T	XP_011537599.1:p.Arg310Cys
XM_017015699.1:c.817C>T	XP_016871188.1:p.Arg273Cys
XM_017015700.1:c.*12C>T	XP_016871189.1:n.*12C>T
XM_017015701.1:c.790C>T	XP_016871190.1:p.Arg264Cys
XM_017015702.1:c.*12C>T	XP_016871191.1:n.*12C>T
XM_017015703.2:c.736C>T	XP_016871192.1:p.Arg246Cys
XM_017015705.1:c.*12C>T	XP_016871194.1:n.*12C>T