Canonical Allele Identifier: CA413702318

Gene: ATRX

Linked Data

• dbSNP Id: rs2148088737
• MyVariant Identifiers: chrX:g.76845323A>T (hg19) ; chrX:g.77589853A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77589853A>T , CM000685.2:g.77589853A>T	GRCh38
NC_000023.10:g.76845323A>T , CM000685.1:g.76845323A>T	GRCh37
NC_000023.9:g.76731979A>T	NCBI36
NG_008838.2:g.201369T>A
NG_008838.3:g.201417T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6198T>A MANE Select	ENSP00000362441.4:p.Asp2066Glu
ENST00000636868.1:n.20T>A
ENST00000675732.1:c.1296T>A	ENSP00000502598.1:p.Asp432Glu
ENST00000373344.9:c.6198T>A	ENSP00000362441.4:p.Asp2066Glu
ENST00000395603.7:c.6084T>A	ENSP00000378967.3:p.Asp2028Glu
ENST00000480283.5:c.*5826T>A	ENSP00000480196.1:n.*5826T>A
ENST00000623316.1:c.682T>A
ENST00000623706.3:n.3268T>A
NM_000489.4:c.6198T>A	NP_000480.3:p.Asp2066Glu
NM_138270.3:c.6084T>A	NP_612114.2:p.Asp2028Glu
XM_005262153.3:c.6195T>A	XP_005262210.2:p.Asp2065Glu
XM_005262154.3:c.6111T>A	XP_005262211.2:p.Asp2037Glu
XM_005262155.3:c.6081T>A	XP_005262212.2:p.Asp2027Glu
XM_005262156.3:c.6033T>A	XP_005262213.2:p.Asp2011Glu
XM_005262157.3:c.5994T>A	XP_005262214.2:p.Asp1998Glu
XM_006724666.2:c.6081T>A	XP_006724729.1:p.Asp2027Glu
XM_006724667.2:c.5919T>A	XP_006724730.1:p.Asp1973Glu
XR_938400.1:n.6540T>A
NM_000489.5:c.6198T>A	NP_000480.3:p.Asp2066Glu
XM_005262153.5:c.6195T>A	XP_005262210.2:p.Asp2065Glu
XM_005262154.5:c.6111T>A	XP_005262211.2:p.Asp2037Glu
XM_005262155.4:c.6081T>A	XP_005262212.2:p.Asp2027Glu
XM_005262156.4:c.6033T>A	XP_005262213.2:p.Asp2011Glu
XM_005262157.5:c.5994T>A	XP_005262214.2:p.Asp1998Glu
XM_006724666.4:c.6081T>A	XP_006724729.1:p.Asp2027Glu
XM_006724667.3:c.5919T>A	XP_006724730.1:p.Asp1973Glu
XM_017029601.2:c.6108T>A	XP_016885090.1:p.Asp2036Glu
XM_017029602.1:c.6078T>A	XP_016885091.1:p.Asp2026Glu
XM_017029603.1:c.6030T>A	XP_016885092.1:p.Asp2010Glu
XM_017029604.2:c.5997T>A	XP_016885093.1:p.Asp1999Glu
XM_017029605.1:c.5994T>A	XP_016885094.1:p.Asp1998Glu
XM_017029606.2:c.5967T>A	XP_016885095.1:p.Asp1989Glu
XM_017029607.2:c.5964T>A	XP_016885096.1:p.Asp1988Glu
XM_017029608.2:c.5916T>A	XP_016885097.1:p.Asp1972Glu
XM_017029609.1:c.5880T>A	XP_016885098.1:p.Asp1960Glu
XM_017029610.1:c.5877T>A	XP_016885099.1:p.Asp1959Glu
XM_017029611.1:c.5832T>A	XP_016885100.1:p.Asp1944Glu
XR_001755700.2:n.6497T>A
NM_138270.4:c.6084T>A	NP_612114.2:p.Asp2028Glu
NM_000489.6:c.6198T>A MANE Select	NP_000480.3:p.Asp2066Glu
NM_138270.5:c.6084T>A	NP_612114.2:p.Asp2028Glu