Canonical Allele Identifier: CA413704209

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763956T>C (hg19) ; chrX:g.77508478T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7352A>G MANE Select	ENSP00000362441.4:p.Tyr2451Cys
ENST00000675732.1:c.2450A>G	ENSP00000502598.1:p.Tyr817Cys
ENST00000373344.9:c.7352A>G	ENSP00000362441.4:p.Tyr2451Cys
ENST00000395603.7:c.7238A>G	ENSP00000378967.3:p.Tyr2413Cys
ENST00000480283.5:c.*6980A>G	ENSP00000480196.1:n.*6980A>G
ENST00000623706.3:n.5672A>G
NM_000489.4:c.7352A>G	NP_000480.3:p.Tyr2451Cys
NM_138270.3:c.7238A>G	NP_612114.2:p.Tyr2413Cys
XM_005262153.3:c.7349A>G	XP_005262210.2:p.Tyr2450Cys
XM_005262154.3:c.7265A>G	XP_005262211.2:p.Tyr2422Cys
XM_005262155.3:c.7235A>G	XP_005262212.2:p.Tyr2412Cys
XM_005262156.3:c.7187A>G	XP_005262213.2:p.Tyr2396Cys
XM_005262157.3:c.7148A>G	XP_005262214.2:p.Tyr2383Cys
XM_006724666.2:c.7235A>G	XP_006724729.1:p.Tyr2412Cys
XM_006724667.2:c.7073A>G	XP_006724730.1:p.Tyr2358Cys
XR_938400.1:n.8944A>G
NM_000489.5:c.7352A>G	NP_000480.3:p.Tyr2451Cys
XM_005262153.5:c.7349A>G	XP_005262210.2:p.Tyr2450Cys
XM_005262154.5:c.7265A>G	XP_005262211.2:p.Tyr2422Cys
XM_005262155.4:c.7235A>G	XP_005262212.2:p.Tyr2412Cys
XM_005262156.4:c.7187A>G	XP_005262213.2:p.Tyr2396Cys
XM_005262157.5:c.7148A>G	XP_005262214.2:p.Tyr2383Cys
XM_006724666.4:c.7235A>G	XP_006724729.1:p.Tyr2412Cys
XM_006724667.3:c.7073A>G	XP_006724730.1:p.Tyr2358Cys
XM_017029601.2:c.7262A>G	XP_016885090.1:p.Tyr2421Cys
XM_017029602.1:c.7232A>G	XP_016885091.1:p.Tyr2411Cys
XM_017029603.1:c.7184A>G	XP_016885092.1:p.Tyr2395Cys
XM_017029604.2:c.7151A>G	XP_016885093.1:p.Tyr2384Cys
XM_017029605.1:c.7148A>G	XP_016885094.1:p.Tyr2383Cys
XM_017029606.2:c.7121A>G	XP_016885095.1:p.Tyr2374Cys
XM_017029607.2:c.7118A>G	XP_016885096.1:p.Tyr2373Cys
XM_017029608.2:c.7070A>G	XP_016885097.1:p.Tyr2357Cys
XM_017029609.1:c.7034A>G	XP_016885098.1:p.Tyr2345Cys
XM_017029610.1:c.7031A>G	XP_016885099.1:p.Tyr2344Cys
XM_017029611.1:c.6986A>G	XP_016885100.1:p.Tyr2329Cys
XR_001755700.2:n.7651A>G
NM_138270.4:c.7238A>G	NP_612114.2:p.Tyr2413Cys
NM_000489.6:c.7352A>G MANE Select	NP_000480.3:p.Tyr2451Cys
NM_138270.5:c.7238A>G	NP_612114.2:p.Tyr2413Cys