Canonical Allele Identifier: CA5564149

Gene: ADK

Linked Data

• ClinVar Variation Id: 300843
• ClinVar RCV Id: RCV000391987 ; RCV000963506
• dbSNP Id: rs148819558
• ExAC: 10:76468202 G / A
• gnomAD v2: 10-76468202-G-A
• gnomAD v3: 10-74708444-G-A
• gnomAD v4: 10-74708444-G-A
• MyVariant Identifiers: chr10:g.76468202G>A (hg19) ; chr10:g.74708444G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.74708444G>A , CM000672.2:g.74708444G>A	GRCh38
NC_000010.10:g.76468202G>A , CM000672.1:g.76468202G>A	GRCh37
NC_000010.9:g.76138208G>A	NCBI36
NG_030484.1:g.562260G>A
NG_030484.2:g.562260G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286621.7:c.*147G>A	ENSP00000286621.3:n.*147G>A
ENST00000372734.5:c.1037G>A	ENSP00000361819.3:p.Ter346=
ENST00000539909.6:c.1088G>A MANE Select	ENSP00000443965.2:p.Ter363=
ENST00000541550.6:c.*88G>A	ENSP00000438321.2:n.*88G>A
ENST00000672394.1:c.812G>A	ENSP00000500390.1:p.Ter271=
ENST00000672429.1:c.917G>A	ENSP00000500292.1:p.Ter306=
ENST00000672604.1:c.626G>A
ENST00000672920.1:c.*833G>A	ENSP00000500141.1:n.*833G>A
ENST00000673027.1:c.983G>A	ENSP00000500201.1:p.Ter328=
ENST00000673310.1:c.*681G>A	ENSP00000500097.1:n.*681G>A
ENST00000673352.1:c.*88G>A	ENSP00000500056.1:n.*88G>A
ENST00000286621.6:c.1088G>A	ENSP00000286621.2:p.Ter363=
ENST00000372734.3:c.1037G>A	ENSP00000361819.3:p.Ter346=
ENST00000539909.5:c.917G>A	ENSP00000443965.1:p.Ter306=
ENST00000541550.5:c.983G>A	ENSP00000438321.1:p.Ter328=
NM_001123.3:c.1037G>A	NP_001114.2:p.Ter346=
NM_001202449.1:c.983G>A	NP_001189378.1:p.Ter328=
NM_001202450.1:c.917G>A	NP_001189379.1:p.Ter306=
NM_006721.3:c.1088G>A	NP_006712.2:p.Ter363=
XM_011539297.1:c.1004G>A	XP_011537599.1:p.Ter335=
XM_017015699.1:c.893G>A	XP_016871188.1:p.Ter298=
XM_017015700.1:c.*88G>A	XP_016871189.1:n.*88G>A
XM_017015701.1:c.866G>A	XP_016871190.1:p.Ter289=
XM_017015702.1:c.*88G>A	XP_016871191.1:n.*88G>A
XM_017015703.2:c.812G>A	XP_016871192.1:p.Ter271=
XM_017015705.1:c.*88G>A	XP_016871194.1:n.*88G>A
NM_001369123.1:c.*88G>A	NP_001356052.1:n.*88G>A
NM_001369124.1:c.866G>A	NP_001356053.1:p.Ter289=
NM_006721.4:c.1088G>A MANE Select	NP_006712.2:p.Ter363=
NM_001123.4:c.1037G>A	NP_001114.2:p.Ter346=
NM_001202449.2:c.983G>A	NP_001189378.1:p.Ter328=
NM_001202450.2:c.917G>A	NP_001189379.1:p.Ter306=