Canonical Allele Identifier: CA413704205

Gene: ATRX

Linked Data

• dbSNP Id: rs2147648692
• MyVariant Identifiers: chrX:g.76763956T>A (hg19) ; chrX:g.77508478T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508478T>A , CM000685.2:g.77508478T>A	GRCh38
NC_000023.10:g.76763956T>A , CM000685.1:g.76763956T>A	GRCh37
NC_000023.9:g.76650612T>A	NCBI36
NG_008838.2:g.282744A>T
NG_008838.3:g.282792A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7352A>T MANE Select	ENSP00000362441.4:p.Tyr2451Phe
ENST00000675732.1:c.2450A>T	ENSP00000502598.1:p.Tyr817Phe
ENST00000373344.9:c.7352A>T	ENSP00000362441.4:p.Tyr2451Phe
ENST00000395603.7:c.7238A>T	ENSP00000378967.3:p.Tyr2413Phe
ENST00000480283.5:c.*6980A>T	ENSP00000480196.1:n.*6980A>T
ENST00000623706.3:n.5672A>T
NM_000489.4:c.7352A>T	NP_000480.3:p.Tyr2451Phe
NM_138270.3:c.7238A>T	NP_612114.2:p.Tyr2413Phe
XM_005262153.3:c.7349A>T	XP_005262210.2:p.Tyr2450Phe
XM_005262154.3:c.7265A>T	XP_005262211.2:p.Tyr2422Phe
XM_005262155.3:c.7235A>T	XP_005262212.2:p.Tyr2412Phe
XM_005262156.3:c.7187A>T	XP_005262213.2:p.Tyr2396Phe
XM_005262157.3:c.7148A>T	XP_005262214.2:p.Tyr2383Phe
XM_006724666.2:c.7235A>T	XP_006724729.1:p.Tyr2412Phe
XM_006724667.2:c.7073A>T	XP_006724730.1:p.Tyr2358Phe
XR_938400.1:n.8944A>T
NM_000489.5:c.7352A>T	NP_000480.3:p.Tyr2451Phe
XM_005262153.5:c.7349A>T	XP_005262210.2:p.Tyr2450Phe
XM_005262154.5:c.7265A>T	XP_005262211.2:p.Tyr2422Phe
XM_005262155.4:c.7235A>T	XP_005262212.2:p.Tyr2412Phe
XM_005262156.4:c.7187A>T	XP_005262213.2:p.Tyr2396Phe
XM_005262157.5:c.7148A>T	XP_005262214.2:p.Tyr2383Phe
XM_006724666.4:c.7235A>T	XP_006724729.1:p.Tyr2412Phe
XM_006724667.3:c.7073A>T	XP_006724730.1:p.Tyr2358Phe
XM_017029601.2:c.7262A>T	XP_016885090.1:p.Tyr2421Phe
XM_017029602.1:c.7232A>T	XP_016885091.1:p.Tyr2411Phe
XM_017029603.1:c.7184A>T	XP_016885092.1:p.Tyr2395Phe
XM_017029604.2:c.7151A>T	XP_016885093.1:p.Tyr2384Phe
XM_017029605.1:c.7148A>T	XP_016885094.1:p.Tyr2383Phe
XM_017029606.2:c.7121A>T	XP_016885095.1:p.Tyr2374Phe
XM_017029607.2:c.7118A>T	XP_016885096.1:p.Tyr2373Phe
XM_017029608.2:c.7070A>T	XP_016885097.1:p.Tyr2357Phe
XM_017029609.1:c.7034A>T	XP_016885098.1:p.Tyr2345Phe
XM_017029610.1:c.7031A>T	XP_016885099.1:p.Tyr2344Phe
XM_017029611.1:c.6986A>T	XP_016885100.1:p.Tyr2329Phe
XR_001755700.2:n.7651A>T
NM_138270.4:c.7238A>T	NP_612114.2:p.Tyr2413Phe
NM_000489.6:c.7352A>T MANE Select	NP_000480.3:p.Tyr2451Phe
NM_138270.5:c.7238A>T	NP_612114.2:p.Tyr2413Phe