Canonical Allele Identifier: CA413704216

Gene: ATRX

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7352A>C MANE Select	ENSP00000362441.4:p.Tyr2451Ser
ENST00000675732.1:c.2450A>C	ENSP00000502598.1:p.Tyr817Ser
ENST00000373344.9:c.7352A>C	ENSP00000362441.4:p.Tyr2451Ser
ENST00000395603.7:c.7238A>C	ENSP00000378967.3:p.Tyr2413Ser
ENST00000480283.5:c.*6980A>C	ENSP00000480196.1:n.*6980A>C
ENST00000623706.3:n.5672A>C
NM_000489.4:c.7352A>C	NP_000480.3:p.Tyr2451Ser
NM_138270.3:c.7238A>C	NP_612114.2:p.Tyr2413Ser
XM_005262153.3:c.7349A>C	XP_005262210.2:p.Tyr2450Ser
XM_005262154.3:c.7265A>C	XP_005262211.2:p.Tyr2422Ser
XM_005262155.3:c.7235A>C	XP_005262212.2:p.Tyr2412Ser
XM_005262156.3:c.7187A>C	XP_005262213.2:p.Tyr2396Ser
XM_005262157.3:c.7148A>C	XP_005262214.2:p.Tyr2383Ser
XM_006724666.2:c.7235A>C	XP_006724729.1:p.Tyr2412Ser
XM_006724667.2:c.7073A>C	XP_006724730.1:p.Tyr2358Ser
XR_938400.1:n.8944A>C
NM_000489.5:c.7352A>C	NP_000480.3:p.Tyr2451Ser
XM_005262153.5:c.7349A>C	XP_005262210.2:p.Tyr2450Ser
XM_005262154.5:c.7265A>C	XP_005262211.2:p.Tyr2422Ser
XM_005262155.4:c.7235A>C	XP_005262212.2:p.Tyr2412Ser
XM_005262156.4:c.7187A>C	XP_005262213.2:p.Tyr2396Ser
XM_005262157.5:c.7148A>C	XP_005262214.2:p.Tyr2383Ser
XM_006724666.4:c.7235A>C	XP_006724729.1:p.Tyr2412Ser
XM_006724667.3:c.7073A>C	XP_006724730.1:p.Tyr2358Ser
XM_017029601.2:c.7262A>C	XP_016885090.1:p.Tyr2421Ser
XM_017029602.1:c.7232A>C	XP_016885091.1:p.Tyr2411Ser
XM_017029603.1:c.7184A>C	XP_016885092.1:p.Tyr2395Ser
XM_017029604.2:c.7151A>C	XP_016885093.1:p.Tyr2384Ser
XM_017029605.1:c.7148A>C	XP_016885094.1:p.Tyr2383Ser
XM_017029606.2:c.7121A>C	XP_016885095.1:p.Tyr2374Ser
XM_017029607.2:c.7118A>C	XP_016885096.1:p.Tyr2373Ser
XM_017029608.2:c.7070A>C	XP_016885097.1:p.Tyr2357Ser
XM_017029609.1:c.7034A>C	XP_016885098.1:p.Tyr2345Ser
XM_017029610.1:c.7031A>C	XP_016885099.1:p.Tyr2344Ser
XM_017029611.1:c.6986A>C	XP_016885100.1:p.Tyr2329Ser
XR_001755700.2:n.7651A>C
NM_138270.4:c.7238A>C	NP_612114.2:p.Tyr2413Ser
NM_000489.6:c.7352A>C MANE Select	NP_000480.3:p.Tyr2451Ser
NM_138270.5:c.7238A>C	NP_612114.2:p.Tyr2413Ser