Canonical Allele Identifier: CA235796
Gene: ADK HGNC NCBI

Linked Data

ClinVar Variation Id: 191003
dbSNP Id: rs786205458

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.74589296T>A , CM000672.2:g.74589296T>A GRCh38
NC_000010.10:g.76349054T>A , CM000672.1:g.76349054T>A GRCh37
NC_000010.9:g.76019060T>A NCBI36
NG_030484.1:g.443112T>A
NG_030484.2:g.443112T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000286621.7:c.741T>A ENSP00000286621.3:p.Phe247Leu
ENST00000372734.5:c.690T>A ENSP00000361819.3:p.Phe230Leu
ENST00000539909.6:c.741T>A MANE Select ENSP00000443965.2:p.Phe247Leu
ENST00000541550.6:c.690T>A ENSP00000438321.2:p.Phe230Leu
ENST00000672394.1:c.465T>A ENSP00000500390.1:p.Phe155Leu
ENST00000672429.1:c.570T>A ENSP00000500292.1:p.Phe190Leu
ENST00000672604.1:c.481T>A
ENST00000672920.1:c.*486T>A ENSP00000500141.1:n.*486T>A
ENST00000673027.1:c.636T>A ENSP00000500201.1:p.Phe212Leu
ENST00000673310.1:c.*334T>A ENSP00000500097.1:n.*334T>A
ENST00000673352.1:c.741T>A ENSP00000500056.1:p.Phe247Leu
ENST00000286621.6:c.741T>A ENSP00000286621.2:p.Phe247Leu
ENST00000372734.3:c.690T>A ENSP00000361819.3:p.Phe230Leu
ENST00000539909.5:c.570T>A ENSP00000443965.1:p.Phe190Leu
ENST00000541550.5:c.636T>A ENSP00000438321.1:p.Phe212Leu
NM_001123.3:c.690T>A NP_001114.2:p.Phe230Leu
NM_001202449.1:c.636T>A NP_001189378.1:p.Phe212Leu
NM_001202450.1:c.570T>A NP_001189379.1:p.Phe190Leu
NM_006721.3:c.741T>A NP_006712.2:p.Phe247Leu
XM_011539297.1:c.657T>A XP_011537599.1:p.Phe219Leu
XM_017015698.1:c.741T>A XP_016871187.1:p.Phe247Leu
XM_017015699.1:c.546T>A XP_016871188.1:p.Phe182Leu
XM_017015700.1:c.741T>A XP_016871189.1:p.Phe247Leu
XM_017015701.1:c.519T>A XP_016871190.1:p.Phe173Leu
XM_017015702.1:c.690T>A XP_016871191.1:p.Phe230Leu
XM_017015703.2:c.465T>A XP_016871192.1:p.Phe155Leu
XM_017015705.1:c.570T>A XP_016871194.1:p.Phe190Leu
NM_001369123.1:c.741T>A NP_001356052.1:p.Phe247Leu
NM_001369124.1:c.519T>A NP_001356053.1:p.Phe173Leu
NM_006721.4:c.741T>A MANE Select NP_006712.2:p.Phe247Leu
NM_001123.4:c.690T>A NP_001114.2:p.Phe230Leu
NM_001202449.2:c.636T>A NP_001189378.1:p.Phe212Leu
NM_001202450.2:c.570T>A NP_001189379.1:p.Phe190Leu