Canonical Allele Identifier: CA413703886

Gene: ATRX

Linked Data

• dbSNP Id: rs782570568
• MyVariant Identifiers: chrX:g.76763906G>A (hg19) ; chrX:g.77508428G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508428G>A , CM000685.2:g.77508428G>A	GRCh38
NC_000023.10:g.76763906G>A , CM000685.1:g.76763906G>A	GRCh37
NC_000023.9:g.76650562G>A	NCBI36
NG_008838.2:g.282794C>T
NG_008838.3:g.282842C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7402C>T MANE Select	ENSP00000362441.4:p.Gln2468Ter
ENST00000675732.1:c.2500C>T	ENSP00000502598.1:p.Gln834Ter
ENST00000373344.9:c.7402C>T	ENSP00000362441.4:p.Gln2468Ter
ENST00000395603.7:c.7288C>T	ENSP00000378967.3:p.Gln2430Ter
ENST00000480283.5:c.*7030C>T	ENSP00000480196.1:n.*7030C>T
ENST00000623706.3:n.5722C>T
NM_000489.4:c.7402C>T	NP_000480.3:p.Gln2468Ter
NM_138270.3:c.7288C>T	NP_612114.2:p.Gln2430Ter
XM_005262153.3:c.7399C>T	XP_005262210.2:p.Gln2467Ter
XM_005262154.3:c.7315C>T	XP_005262211.2:p.Gln2439Ter
XM_005262155.3:c.7285C>T	XP_005262212.2:p.Gln2429Ter
XM_005262156.3:c.7237C>T	XP_005262213.2:p.Gln2413Ter
XM_005262157.3:c.7198C>T	XP_005262214.2:p.Gln2400Ter
XM_006724666.2:c.7285C>T	XP_006724729.1:p.Gln2429Ter
XM_006724667.2:c.7123C>T	XP_006724730.1:p.Gln2375Ter
XR_938400.1:n.8994C>T
NM_000489.5:c.7402C>T	NP_000480.3:p.Gln2468Ter
XM_005262153.5:c.7399C>T	XP_005262210.2:p.Gln2467Ter
XM_005262154.5:c.7315C>T	XP_005262211.2:p.Gln2439Ter
XM_005262155.4:c.7285C>T	XP_005262212.2:p.Gln2429Ter
XM_005262156.4:c.7237C>T	XP_005262213.2:p.Gln2413Ter
XM_005262157.5:c.7198C>T	XP_005262214.2:p.Gln2400Ter
XM_006724666.4:c.7285C>T	XP_006724729.1:p.Gln2429Ter
XM_006724667.3:c.7123C>T	XP_006724730.1:p.Gln2375Ter
XM_017029601.2:c.7312C>T	XP_016885090.1:p.Gln2438Ter
XM_017029602.1:c.7282C>T	XP_016885091.1:p.Gln2428Ter
XM_017029603.1:c.7234C>T	XP_016885092.1:p.Gln2412Ter
XM_017029604.2:c.7201C>T	XP_016885093.1:p.Gln2401Ter
XM_017029605.1:c.7198C>T	XP_016885094.1:p.Gln2400Ter
XM_017029606.2:c.7171C>T	XP_016885095.1:p.Gln2391Ter
XM_017029607.2:c.7168C>T	XP_016885096.1:p.Gln2390Ter
XM_017029608.2:c.7120C>T	XP_016885097.1:p.Gln2374Ter
XM_017029609.1:c.7084C>T	XP_016885098.1:p.Gln2362Ter
XM_017029610.1:c.7081C>T	XP_016885099.1:p.Gln2361Ter
XM_017029611.1:c.7036C>T	XP_016885100.1:p.Gln2346Ter
XR_001755700.2:n.7701C>T
NM_138270.4:c.7288C>T	NP_612114.2:p.Gln2430Ter
NM_000489.6:c.7402C>T MANE Select	NP_000480.3:p.Gln2468Ter
NM_138270.5:c.7288C>T	NP_612114.2:p.Gln2430Ter