Canonical Allele Identifier: CA5564016

Gene: ADK

Linked Data

• ClinVar Variation Id: 2550953
• ClinVar RCV Id: RCV003282622
• dbSNP Id: rs757880793
• ExAC: 10:76285177 A / G
• gnomAD v2: 10-76285177-A-G
• gnomAD v4: 10-74525419-A-G
• MyVariant Identifiers: chr10:g.76285177A>G (hg19) ; chr10:g.74525419A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.74525419A>G , CM000672.2:g.74525419A>G	GRCh38
NC_000010.10:g.76285177A>G , CM000672.1:g.76285177A>G	GRCh37
NC_000010.9:g.75955183A>G	NCBI36
NG_030484.1:g.379235A>G
NG_030484.2:g.379235A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286621.7:c.719A>G	ENSP00000286621.3:p.Asn240Ser
ENST00000372734.5:c.668A>G	ENSP00000361819.3:p.Asn223Ser
ENST00000539909.6:c.719A>G MANE Select	ENSP00000443965.2:p.Asn240Ser
ENST00000541550.6:c.668A>G	ENSP00000438321.2:p.Asn223Ser
ENST00000672394.1:c.443A>G	ENSP00000500390.1:p.Asn148Ser
ENST00000672429.1:c.556-63863A>G	ENSP00000500292.1:n.556-63863A>G
ENST00000672604.1:c.459A>G
ENST00000672920.1:c.*464A>G	ENSP00000500141.1:n.*464A>G
ENST00000673027.1:c.614A>G	ENSP00000500201.1:p.Asn205Ser
ENST00000673310.1:c.668A>G	ENSP00000500097.1:p.Asn223Ser
ENST00000673352.1:c.719A>G	ENSP00000500056.1:p.Asn240Ser
ENST00000286621.6:c.719A>G	ENSP00000286621.2:p.Asn240Ser
ENST00000372734.3:c.668A>G	ENSP00000361819.3:p.Asn223Ser
ENST00000467840.1:n.56A>G
ENST00000539909.5:c.556-63863A>G	ENSP00000443965.1:n.556-63863A>G
ENST00000541550.5:c.614A>G	ENSP00000438321.1:p.Asn205Ser
NM_001123.3:c.668A>G	NP_001114.2:p.Asn223Ser
NM_001202449.1:c.614A>G	NP_001189378.1:p.Asn205Ser
NM_001202450.1:c.556-63863A>G	NP_001189379.1:n.556-63863A>G
NM_006721.3:c.719A>G	NP_006712.2:p.Asn240Ser
NR_120673.1:n.259+2347T>C
XM_011539297.1:c.635A>G	XP_011537599.1:p.Asn212Ser
XM_017015698.1:c.719A>G	XP_016871187.1:p.Asn240Ser
XM_017015699.1:c.524A>G	XP_016871188.1:p.Asn175Ser
XM_017015700.1:c.719A>G	XP_016871189.1:p.Asn240Ser
XM_017015701.1:c.505-63863A>G	XP_016871190.1:n.505-63863A>G
XM_017015702.1:c.668A>G	XP_016871191.1:p.Asn223Ser
XM_017015703.2:c.443A>G	XP_016871192.1:p.Asn148Ser
XM_017015704.1:c.719A>G	XP_016871193.1:p.Asn240Ser
XM_017015705.1:c.556-63863A>G	XP_016871194.1:n.556-63863A>G
XM_017015706.1:c.668A>G	XP_016871195.1:p.Asn223Ser
NM_001369123.1:c.719A>G	NP_001356052.1:p.Asn240Ser
NM_001369124.1:c.505-63863A>G	NP_001356053.1:n.505-63863A>G
NM_006721.4:c.719A>G MANE Select	NP_006712.2:p.Asn240Ser
NM_001123.4:c.668A>G	NP_001114.2:p.Asn223Ser
NM_001202449.2:c.614A>G	NP_001189378.1:p.Asn205Ser
NM_001202450.2:c.556-63863A>G	NP_001189379.1:n.556-63863A>G