Canonical Allele Identifier: CA413704903

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76764043T>A (hg19) ; chrX:g.77508565T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508565T>A , CM000685.2:g.77508565T>A	GRCh38
NC_000023.10:g.76764043T>A , CM000685.1:g.76764043T>A	GRCh37
NC_000023.9:g.76650699T>A	NCBI36
NG_008838.2:g.282657A>T
NG_008838.3:g.282705A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7265A>T MANE Select	ENSP00000362441.4:p.Gln2422Leu
ENST00000675732.1:c.2363A>T	ENSP00000502598.1:p.Gln788Leu
ENST00000373344.9:c.7265A>T	ENSP00000362441.4:p.Gln2422Leu
ENST00000395603.7:c.7151A>T	ENSP00000378967.3:p.Gln2384Leu
ENST00000480283.5:c.*6893A>T	ENSP00000480196.1:n.*6893A>T
ENST00000623706.3:n.5585A>T
ENST00000624766.1:n.496A>T
NM_000489.4:c.7265A>T	NP_000480.3:p.Gln2422Leu
NM_138270.3:c.7151A>T	NP_612114.2:p.Gln2384Leu
XM_005262153.3:c.7262A>T	XP_005262210.2:p.Gln2421Leu
XM_005262154.3:c.7178A>T	XP_005262211.2:p.Gln2393Leu
XM_005262155.3:c.7148A>T	XP_005262212.2:p.Gln2383Leu
XM_005262156.3:c.7100A>T	XP_005262213.2:p.Gln2367Leu
XM_005262157.3:c.7061A>T	XP_005262214.2:p.Gln2354Leu
XM_006724666.2:c.7148A>T	XP_006724729.1:p.Gln2383Leu
XM_006724667.2:c.6986A>T	XP_006724730.1:p.Gln2329Leu
XR_938400.1:n.8857A>T
NM_000489.5:c.7265A>T	NP_000480.3:p.Gln2422Leu
XM_005262153.5:c.7262A>T	XP_005262210.2:p.Gln2421Leu
XM_005262154.5:c.7178A>T	XP_005262211.2:p.Gln2393Leu
XM_005262155.4:c.7148A>T	XP_005262212.2:p.Gln2383Leu
XM_005262156.4:c.7100A>T	XP_005262213.2:p.Gln2367Leu
XM_005262157.5:c.7061A>T	XP_005262214.2:p.Gln2354Leu
XM_006724666.4:c.7148A>T	XP_006724729.1:p.Gln2383Leu
XM_006724667.3:c.6986A>T	XP_006724730.1:p.Gln2329Leu
XM_017029601.2:c.7175A>T	XP_016885090.1:p.Gln2392Leu
XM_017029602.1:c.7145A>T	XP_016885091.1:p.Gln2382Leu
XM_017029603.1:c.7097A>T	XP_016885092.1:p.Gln2366Leu
XM_017029604.2:c.7064A>T	XP_016885093.1:p.Gln2355Leu
XM_017029605.1:c.7061A>T	XP_016885094.1:p.Gln2354Leu
XM_017029606.2:c.7034A>T	XP_016885095.1:p.Gln2345Leu
XM_017029607.2:c.7031A>T	XP_016885096.1:p.Gln2344Leu
XM_017029608.2:c.6983A>T	XP_016885097.1:p.Gln2328Leu
XM_017029609.1:c.6947A>T	XP_016885098.1:p.Gln2316Leu
XM_017029610.1:c.6944A>T	XP_016885099.1:p.Gln2315Leu
XM_017029611.1:c.6899A>T	XP_016885100.1:p.Gln2300Leu
XR_001755700.2:n.7564A>T
NM_138270.4:c.7151A>T	NP_612114.2:p.Gln2384Leu
NM_000489.6:c.7265A>T MANE Select	NP_000480.3:p.Gln2422Leu
NM_138270.5:c.7151A>T	NP_612114.2:p.Gln2384Leu