Canonical Allele Identifier: CA517374035

Gene: ATRX

Linked Data

• dbSNP Id: rs2147646956
• MyVariant Identifiers: chrX:g.76763904C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508426C>T , CM000685.2:g.77508426C>T	GRCh38
NC_000023.10:g.76763904C>T , CM000685.1:g.76763904C>T	GRCh37
NC_000023.9:g.76650560C>T	NCBI36
NG_008838.2:g.282796G>A
NG_008838.3:g.282844G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7404G>A MANE Select	ENSP00000362441.4:p.Gln2468=
ENST00000675732.1:c.2502G>A	ENSP00000502598.1:p.Gln834=
ENST00000373344.9:c.7404G>A	ENSP00000362441.4:p.Gln2468=
ENST00000395603.7:c.7290G>A	ENSP00000378967.3:p.Gln2430=
ENST00000480283.5:c.*7032G>A	ENSP00000480196.1:n.*7032G>A
ENST00000623706.3:n.5724G>A
NM_000489.4:c.7404G>A	NP_000480.3:p.Gln2468=
NM_138270.3:c.7290G>A	NP_612114.2:p.Gln2430=
XM_005262153.3:c.7401G>A	XP_005262210.2:p.Gln2467=
XM_005262154.3:c.7317G>A	XP_005262211.2:p.Gln2439=
XM_005262155.3:c.7287G>A	XP_005262212.2:p.Gln2429=
XM_005262156.3:c.7239G>A	XP_005262213.2:p.Gln2413=
XM_005262157.3:c.7200G>A	XP_005262214.2:p.Gln2400=
XM_006724666.2:c.7287G>A	XP_006724729.1:p.Gln2429=
XM_006724667.2:c.7125G>A	XP_006724730.1:p.Gln2375=
XR_938400.1:n.8996G>A
NM_000489.5:c.7404G>A	NP_000480.3:p.Gln2468=
XM_005262153.5:c.7401G>A	XP_005262210.2:p.Gln2467=
XM_005262154.5:c.7317G>A	XP_005262211.2:p.Gln2439=
XM_005262155.4:c.7287G>A	XP_005262212.2:p.Gln2429=
XM_005262156.4:c.7239G>A	XP_005262213.2:p.Gln2413=
XM_005262157.5:c.7200G>A	XP_005262214.2:p.Gln2400=
XM_006724666.4:c.7287G>A	XP_006724729.1:p.Gln2429=
XM_006724667.3:c.7125G>A	XP_006724730.1:p.Gln2375=
XM_017029601.2:c.7314G>A	XP_016885090.1:p.Gln2438=
XM_017029602.1:c.7284G>A	XP_016885091.1:p.Gln2428=
XM_017029603.1:c.7236G>A	XP_016885092.1:p.Gln2412=
XM_017029604.2:c.7203G>A	XP_016885093.1:p.Gln2401=
XM_017029605.1:c.7200G>A	XP_016885094.1:p.Gln2400=
XM_017029606.2:c.7173G>A	XP_016885095.1:p.Gln2391=
XM_017029607.2:c.7170G>A	XP_016885096.1:p.Gln2390=
XM_017029608.2:c.7122G>A	XP_016885097.1:p.Gln2374=
XM_017029609.1:c.7086G>A	XP_016885098.1:p.Gln2362=
XM_017029610.1:c.7083G>A	XP_016885099.1:p.Gln2361=
XM_017029611.1:c.7038G>A	XP_016885100.1:p.Gln2346=
XR_001755700.2:n.7703G>A
NM_138270.4:c.7290G>A	NP_612114.2:p.Gln2430=
NM_000489.6:c.7404G>A MANE Select	NP_000480.3:p.Gln2468=
NM_138270.5:c.7290G>A	NP_612114.2:p.Gln2430=