Canonical Allele Identifier: CA413704175

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763953T>C (hg19) ; chrX:g.77508475T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508475T>C , CM000685.2:g.77508475T>C	GRCh38
NC_000023.10:g.76763953T>C , CM000685.1:g.76763953T>C	GRCh37
NC_000023.9:g.76650609T>C	NCBI36
NG_008838.2:g.282747A>G
NG_008838.3:g.282795A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000373344.11:c.7355A>G MANE Select	ENSP00000362441.4:p.Gln2452Arg
ENST00000675732.1:c.2453A>G	ENSP00000502598.1:p.Gln818Arg
ENST00000373344.9:c.7355A>G	ENSP00000362441.4:p.Gln2452Arg
ENST00000395603.7:c.7241A>G	ENSP00000378967.3:p.Gln2414Arg
ENST00000480283.5:c.*6983A>G	ENSP00000480196.1:n.*6983A>G
ENST00000623706.3:n.5675A>G
NM_000489.4:c.7355A>G	NP_000480.3:p.Gln2452Arg
NM_138270.3:c.7241A>G	NP_612114.2:p.Gln2414Arg
XM_005262153.3:c.7352A>G	XP_005262210.2:p.Gln2451Arg
XM_005262154.3:c.7268A>G	XP_005262211.2:p.Gln2423Arg
XM_005262155.3:c.7238A>G	XP_005262212.2:p.Gln2413Arg
XM_005262156.3:c.7190A>G	XP_005262213.2:p.Gln2397Arg
XM_005262157.3:c.7151A>G	XP_005262214.2:p.Gln2384Arg
XM_006724666.2:c.7238A>G	XP_006724729.1:p.Gln2413Arg
XM_006724667.2:c.7076A>G	XP_006724730.1:p.Gln2359Arg
XR_938400.1:n.8947A>G
NM_000489.5:c.7355A>G	NP_000480.3:p.Gln2452Arg
XM_005262153.5:c.7352A>G	XP_005262210.2:p.Gln2451Arg
XM_005262154.5:c.7268A>G	XP_005262211.2:p.Gln2423Arg
XM_005262155.4:c.7238A>G	XP_005262212.2:p.Gln2413Arg
XM_005262156.4:c.7190A>G	XP_005262213.2:p.Gln2397Arg
XM_005262157.5:c.7151A>G	XP_005262214.2:p.Gln2384Arg
XM_006724666.4:c.7238A>G	XP_006724729.1:p.Gln2413Arg
XM_006724667.3:c.7076A>G	XP_006724730.1:p.Gln2359Arg
XM_017029601.2:c.7265A>G	XP_016885090.1:p.Gln2422Arg
XM_017029602.1:c.7235A>G	XP_016885091.1:p.Gln2412Arg
XM_017029603.1:c.7187A>G	XP_016885092.1:p.Gln2396Arg
XM_017029604.2:c.7154A>G	XP_016885093.1:p.Gln2385Arg
XM_017029605.1:c.7151A>G	XP_016885094.1:p.Gln2384Arg
XM_017029606.2:c.7124A>G	XP_016885095.1:p.Gln2375Arg
XM_017029607.2:c.7121A>G	XP_016885096.1:p.Gln2374Arg
XM_017029608.2:c.7073A>G	XP_016885097.1:p.Gln2358Arg
XM_017029609.1:c.7037A>G	XP_016885098.1:p.Gln2346Arg
XM_017029610.1:c.7034A>G	XP_016885099.1:p.Gln2345Arg
XM_017029611.1:c.6989A>G	XP_016885100.1:p.Gln2330Arg
XR_001755700.2:n.7654A>G
NM_138270.4:c.7241A>G	NP_612114.2:p.Gln2414Arg
NM_000489.6:c.7355A>G MANE Select	NP_000480.3:p.Gln2452Arg
NM_138270.5:c.7241A>G	NP_612114.2:p.Gln2414Arg