Canonical Allele Identifier: CA413703870

Gene: ATRX

Linked Data

• dbSNP Id: rs2147647014
• MyVariant Identifiers: chrX:g.76763905T>C (hg19) ; chrX:g.77508427T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508427T>C , CM000685.2:g.77508427T>C	GRCh38
NC_000023.10:g.76763905T>C , CM000685.1:g.76763905T>C	GRCh37
NC_000023.9:g.76650561T>C	NCBI36
NG_008838.2:g.282795A>G
NG_008838.3:g.282843A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7403A>G MANE Select	ENSP00000362441.4:p.Gln2468Arg
ENST00000675732.1:c.2501A>G	ENSP00000502598.1:p.Gln834Arg
ENST00000373344.9:c.7403A>G	ENSP00000362441.4:p.Gln2468Arg
ENST00000395603.7:c.7289A>G	ENSP00000378967.3:p.Gln2430Arg
ENST00000480283.5:c.*7031A>G	ENSP00000480196.1:n.*7031A>G
ENST00000623706.3:n.5723A>G
NM_000489.4:c.7403A>G	NP_000480.3:p.Gln2468Arg
NM_138270.3:c.7289A>G	NP_612114.2:p.Gln2430Arg
XM_005262153.3:c.7400A>G	XP_005262210.2:p.Gln2467Arg
XM_005262154.3:c.7316A>G	XP_005262211.2:p.Gln2439Arg
XM_005262155.3:c.7286A>G	XP_005262212.2:p.Gln2429Arg
XM_005262156.3:c.7238A>G	XP_005262213.2:p.Gln2413Arg
XM_005262157.3:c.7199A>G	XP_005262214.2:p.Gln2400Arg
XM_006724666.2:c.7286A>G	XP_006724729.1:p.Gln2429Arg
XM_006724667.2:c.7124A>G	XP_006724730.1:p.Gln2375Arg
XR_938400.1:n.8995A>G
NM_000489.5:c.7403A>G	NP_000480.3:p.Gln2468Arg
XM_005262153.5:c.7400A>G	XP_005262210.2:p.Gln2467Arg
XM_005262154.5:c.7316A>G	XP_005262211.2:p.Gln2439Arg
XM_005262155.4:c.7286A>G	XP_005262212.2:p.Gln2429Arg
XM_005262156.4:c.7238A>G	XP_005262213.2:p.Gln2413Arg
XM_005262157.5:c.7199A>G	XP_005262214.2:p.Gln2400Arg
XM_006724666.4:c.7286A>G	XP_006724729.1:p.Gln2429Arg
XM_006724667.3:c.7124A>G	XP_006724730.1:p.Gln2375Arg
XM_017029601.2:c.7313A>G	XP_016885090.1:p.Gln2438Arg
XM_017029602.1:c.7283A>G	XP_016885091.1:p.Gln2428Arg
XM_017029603.1:c.7235A>G	XP_016885092.1:p.Gln2412Arg
XM_017029604.2:c.7202A>G	XP_016885093.1:p.Gln2401Arg
XM_017029605.1:c.7199A>G	XP_016885094.1:p.Gln2400Arg
XM_017029606.2:c.7172A>G	XP_016885095.1:p.Gln2391Arg
XM_017029607.2:c.7169A>G	XP_016885096.1:p.Gln2390Arg
XM_017029608.2:c.7121A>G	XP_016885097.1:p.Gln2374Arg
XM_017029609.1:c.7085A>G	XP_016885098.1:p.Gln2362Arg
XM_017029610.1:c.7082A>G	XP_016885099.1:p.Gln2361Arg
XM_017029611.1:c.7037A>G	XP_016885100.1:p.Gln2346Arg
XR_001755700.2:n.7702A>G
NM_138270.4:c.7289A>G	NP_612114.2:p.Gln2430Arg
NM_000489.6:c.7403A>G MANE Select	NP_000480.3:p.Gln2468Arg
NM_138270.5:c.7289A>G	NP_612114.2:p.Gln2430Arg