Canonical Allele Identifier: CA470254771

Gene: ADK

Linked Data

• gnomAD v4: 10-74525267-T-C
• MyVariant Identifiers: chr10:g.76285025T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.74525267T>C , CM000672.2:g.74525267T>C	GRCh38
NC_000010.10:g.76285025T>C , CM000672.1:g.76285025T>C	GRCh37
NC_000010.9:g.75955031T>C	NCBI36
NG_030484.1:g.379083T>C
NG_030484.2:g.379083T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286621.7:c.567T>C	ENSP00000286621.3:p.Leu189=
ENST00000372734.5:c.516T>C	ENSP00000361819.3:p.Leu172=
ENST00000539909.6:c.567T>C MANE Select	ENSP00000443965.2:p.Leu189=
ENST00000541550.6:c.516T>C	ENSP00000438321.2:p.Leu172=
ENST00000672394.1:c.291T>C	ENSP00000500390.1:p.Leu97=
ENST00000672429.1:c.556-64015T>C	ENSP00000500292.1:n.556-64015T>C
ENST00000672604.1:c.307T>C
ENST00000672920.1:c.*312T>C	ENSP00000500141.1:n.*312T>C
ENST00000673027.1:c.462T>C	ENSP00000500201.1:p.Leu154=
ENST00000673310.1:c.516T>C	ENSP00000500097.1:p.Leu172=
ENST00000673352.1:c.567T>C	ENSP00000500056.1:p.Leu189=
ENST00000286621.6:c.567T>C	ENSP00000286621.2:p.Leu189=
ENST00000372734.3:c.516T>C	ENSP00000361819.3:p.Leu172=
ENST00000539909.5:c.556-64015T>C	ENSP00000443965.1:n.556-64015T>C
ENST00000541550.5:c.462T>C	ENSP00000438321.1:p.Leu154=
NM_001123.3:c.516T>C	NP_001114.2:p.Leu172=
NM_001202449.1:c.462T>C	NP_001189378.1:p.Leu154=
NM_001202450.1:c.556-64015T>C	NP_001189379.1:n.556-64015T>C
NM_006721.3:c.567T>C	NP_006712.2:p.Leu189=
NR_120673.1:n.259+2499A>G
XM_011539297.1:c.483T>C	XP_011537599.1:p.Leu161=
XM_017015698.1:c.567T>C	XP_016871187.1:p.Leu189=
XM_017015699.1:c.372T>C	XP_016871188.1:p.Leu124=
XM_017015700.1:c.567T>C	XP_016871189.1:p.Leu189=
XM_017015701.1:c.505-64015T>C	XP_016871190.1:n.505-64015T>C
XM_017015702.1:c.516T>C	XP_016871191.1:p.Leu172=
XM_017015703.2:c.291T>C	XP_016871192.1:p.Leu97=
XM_017015704.1:c.567T>C	XP_016871193.1:p.Leu189=
XM_017015705.1:c.556-64015T>C	XP_016871194.1:n.556-64015T>C
XM_017015706.1:c.516T>C	XP_016871195.1:p.Leu172=
NM_001369123.1:c.567T>C	NP_001356052.1:p.Leu189=
NM_001369124.1:c.505-64015T>C	NP_001356053.1:n.505-64015T>C
NM_006721.4:c.567T>C MANE Select	NP_006712.2:p.Leu189=
NM_001123.4:c.516T>C	NP_001114.2:p.Leu172=
NM_001202449.2:c.462T>C	NP_001189378.1:p.Leu154=
NM_001202450.2:c.556-64015T>C	NP_001189379.1:n.556-64015T>C