Canonical Allele Identifier: CA10457381

Gene: ATRX

Linked Data

• dbSNP Id: rs782570568
• ExAC: X:76763906 G / C
• MyVariant Identifiers: chrX:g.76763906G>C (hg19) ; chrX:g.77508428G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7402C>G MANE Select	ENSP00000362441.4:p.Gln2468Glu
ENST00000675732.1:c.2500C>G	ENSP00000502598.1:p.Gln834Glu
ENST00000373344.9:c.7402C>G	ENSP00000362441.4:p.Gln2468Glu
ENST00000395603.7:c.7288C>G	ENSP00000378967.3:p.Gln2430Glu
ENST00000480283.5:c.*7030C>G	ENSP00000480196.1:n.*7030C>G
ENST00000623706.3:n.5722C>G
NM_000489.4:c.7402C>G	NP_000480.3:p.Gln2468Glu
NM_138270.3:c.7288C>G	NP_612114.2:p.Gln2430Glu
XM_005262153.3:c.7399C>G	XP_005262210.2:p.Gln2467Glu
XM_005262154.3:c.7315C>G	XP_005262211.2:p.Gln2439Glu
XM_005262155.3:c.7285C>G	XP_005262212.2:p.Gln2429Glu
XM_005262156.3:c.7237C>G	XP_005262213.2:p.Gln2413Glu
XM_005262157.3:c.7198C>G	XP_005262214.2:p.Gln2400Glu
XM_006724666.2:c.7285C>G	XP_006724729.1:p.Gln2429Glu
XM_006724667.2:c.7123C>G	XP_006724730.1:p.Gln2375Glu
XR_938400.1:n.8994C>G
NM_000489.5:c.7402C>G	NP_000480.3:p.Gln2468Glu
XM_005262153.5:c.7399C>G	XP_005262210.2:p.Gln2467Glu
XM_005262154.5:c.7315C>G	XP_005262211.2:p.Gln2439Glu
XM_005262155.4:c.7285C>G	XP_005262212.2:p.Gln2429Glu
XM_005262156.4:c.7237C>G	XP_005262213.2:p.Gln2413Glu
XM_005262157.5:c.7198C>G	XP_005262214.2:p.Gln2400Glu
XM_006724666.4:c.7285C>G	XP_006724729.1:p.Gln2429Glu
XM_006724667.3:c.7123C>G	XP_006724730.1:p.Gln2375Glu
XM_017029601.2:c.7312C>G	XP_016885090.1:p.Gln2438Glu
XM_017029602.1:c.7282C>G	XP_016885091.1:p.Gln2428Glu
XM_017029603.1:c.7234C>G	XP_016885092.1:p.Gln2412Glu
XM_017029604.2:c.7201C>G	XP_016885093.1:p.Gln2401Glu
XM_017029605.1:c.7198C>G	XP_016885094.1:p.Gln2400Glu
XM_017029606.2:c.7171C>G	XP_016885095.1:p.Gln2391Glu
XM_017029607.2:c.7168C>G	XP_016885096.1:p.Gln2390Glu
XM_017029608.2:c.7120C>G	XP_016885097.1:p.Gln2374Glu
XM_017029609.1:c.7084C>G	XP_016885098.1:p.Gln2362Glu
XM_017029610.1:c.7081C>G	XP_016885099.1:p.Gln2361Glu
XM_017029611.1:c.7036C>G	XP_016885100.1:p.Gln2346Glu
XR_001755700.2:n.7701C>G
NM_138270.4:c.7288C>G	NP_612114.2:p.Gln2430Glu
NM_000489.6:c.7402C>G MANE Select	NP_000480.3:p.Gln2468Glu
NM_138270.5:c.7288C>G	NP_612114.2:p.Gln2430Glu