Canonical Allele Identifier: CA413704218

Gene: ATRX

Linked Data

• dbSNP Id: rs2147648735
• MyVariant Identifiers: chrX:g.76763957A>T (hg19) ; chrX:g.77508479A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508479A>T , CM000685.2:g.77508479A>T	GRCh38
NC_000023.10:g.76763957A>T , CM000685.1:g.76763957A>T	GRCh37
NC_000023.9:g.76650613A>T	NCBI36
NG_008838.2:g.282743T>A
NG_008838.3:g.282791T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7351T>A MANE Select	ENSP00000362441.4:p.Tyr2451Asn
ENST00000675732.1:c.2449T>A	ENSP00000502598.1:p.Tyr817Asn
ENST00000373344.9:c.7351T>A	ENSP00000362441.4:p.Tyr2451Asn
ENST00000395603.7:c.7237T>A	ENSP00000378967.3:p.Tyr2413Asn
ENST00000480283.5:c.*6979T>A	ENSP00000480196.1:n.*6979T>A
ENST00000623706.3:n.5671T>A
NM_000489.4:c.7351T>A	NP_000480.3:p.Tyr2451Asn
NM_138270.3:c.7237T>A	NP_612114.2:p.Tyr2413Asn
XM_005262153.3:c.7348T>A	XP_005262210.2:p.Tyr2450Asn
XM_005262154.3:c.7264T>A	XP_005262211.2:p.Tyr2422Asn
XM_005262155.3:c.7234T>A	XP_005262212.2:p.Tyr2412Asn
XM_005262156.3:c.7186T>A	XP_005262213.2:p.Tyr2396Asn
XM_005262157.3:c.7147T>A	XP_005262214.2:p.Tyr2383Asn
XM_006724666.2:c.7234T>A	XP_006724729.1:p.Tyr2412Asn
XM_006724667.2:c.7072T>A	XP_006724730.1:p.Tyr2358Asn
XR_938400.1:n.8943T>A
NM_000489.5:c.7351T>A	NP_000480.3:p.Tyr2451Asn
XM_005262153.5:c.7348T>A	XP_005262210.2:p.Tyr2450Asn
XM_005262154.5:c.7264T>A	XP_005262211.2:p.Tyr2422Asn
XM_005262155.4:c.7234T>A	XP_005262212.2:p.Tyr2412Asn
XM_005262156.4:c.7186T>A	XP_005262213.2:p.Tyr2396Asn
XM_005262157.5:c.7147T>A	XP_005262214.2:p.Tyr2383Asn
XM_006724666.4:c.7234T>A	XP_006724729.1:p.Tyr2412Asn
XM_006724667.3:c.7072T>A	XP_006724730.1:p.Tyr2358Asn
XM_017029601.2:c.7261T>A	XP_016885090.1:p.Tyr2421Asn
XM_017029602.1:c.7231T>A	XP_016885091.1:p.Tyr2411Asn
XM_017029603.1:c.7183T>A	XP_016885092.1:p.Tyr2395Asn
XM_017029604.2:c.7150T>A	XP_016885093.1:p.Tyr2384Asn
XM_017029605.1:c.7147T>A	XP_016885094.1:p.Tyr2383Asn
XM_017029606.2:c.7120T>A	XP_016885095.1:p.Tyr2374Asn
XM_017029607.2:c.7117T>A	XP_016885096.1:p.Tyr2373Asn
XM_017029608.2:c.7069T>A	XP_016885097.1:p.Tyr2357Asn
XM_017029609.1:c.7033T>A	XP_016885098.1:p.Tyr2345Asn
XM_017029610.1:c.7030T>A	XP_016885099.1:p.Tyr2344Asn
XM_017029611.1:c.6985T>A	XP_016885100.1:p.Tyr2329Asn
XR_001755700.2:n.7650T>A
NM_138270.4:c.7237T>A	NP_612114.2:p.Tyr2413Asn
NM_000489.6:c.7351T>A MANE Select	NP_000480.3:p.Tyr2451Asn
NM_138270.5:c.7237T>A	NP_612114.2:p.Tyr2413Asn