Canonical Allele Identifier: CA413704173

Gene: ATRX

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000373344.11:c.7355A>T MANE Select	ENSP00000362441.4:p.Gln2452Leu
ENST00000675732.1:c.2453A>T	ENSP00000502598.1:p.Gln818Leu
ENST00000373344.9:c.7355A>T	ENSP00000362441.4:p.Gln2452Leu
ENST00000395603.7:c.7241A>T	ENSP00000378967.3:p.Gln2414Leu
ENST00000480283.5:c.*6983A>T	ENSP00000480196.1:n.*6983A>T
ENST00000623706.3:n.5675A>T
NM_000489.4:c.7355A>T	NP_000480.3:p.Gln2452Leu
NM_138270.3:c.7241A>T	NP_612114.2:p.Gln2414Leu
XM_005262153.3:c.7352A>T	XP_005262210.2:p.Gln2451Leu
XM_005262154.3:c.7268A>T	XP_005262211.2:p.Gln2423Leu
XM_005262155.3:c.7238A>T	XP_005262212.2:p.Gln2413Leu
XM_005262156.3:c.7190A>T	XP_005262213.2:p.Gln2397Leu
XM_005262157.3:c.7151A>T	XP_005262214.2:p.Gln2384Leu
XM_006724666.2:c.7238A>T	XP_006724729.1:p.Gln2413Leu
XM_006724667.2:c.7076A>T	XP_006724730.1:p.Gln2359Leu
XR_938400.1:n.8947A>T
NM_000489.5:c.7355A>T	NP_000480.3:p.Gln2452Leu
XM_005262153.5:c.7352A>T	XP_005262210.2:p.Gln2451Leu
XM_005262154.5:c.7268A>T	XP_005262211.2:p.Gln2423Leu
XM_005262155.4:c.7238A>T	XP_005262212.2:p.Gln2413Leu
XM_005262156.4:c.7190A>T	XP_005262213.2:p.Gln2397Leu
XM_005262157.5:c.7151A>T	XP_005262214.2:p.Gln2384Leu
XM_006724666.4:c.7238A>T	XP_006724729.1:p.Gln2413Leu
XM_006724667.3:c.7076A>T	XP_006724730.1:p.Gln2359Leu
XM_017029601.2:c.7265A>T	XP_016885090.1:p.Gln2422Leu
XM_017029602.1:c.7235A>T	XP_016885091.1:p.Gln2412Leu
XM_017029603.1:c.7187A>T	XP_016885092.1:p.Gln2396Leu
XM_017029604.2:c.7154A>T	XP_016885093.1:p.Gln2385Leu
XM_017029605.1:c.7151A>T	XP_016885094.1:p.Gln2384Leu
XM_017029606.2:c.7124A>T	XP_016885095.1:p.Gln2375Leu
XM_017029607.2:c.7121A>T	XP_016885096.1:p.Gln2374Leu
XM_017029608.2:c.7073A>T	XP_016885097.1:p.Gln2358Leu
XM_017029609.1:c.7037A>T	XP_016885098.1:p.Gln2346Leu
XM_017029610.1:c.7034A>T	XP_016885099.1:p.Gln2345Leu
XM_017029611.1:c.6989A>T	XP_016885100.1:p.Gln2330Leu
XR_001755700.2:n.7654A>T
NM_138270.4:c.7241A>T	NP_612114.2:p.Gln2414Leu
NM_000489.6:c.7355A>T MANE Select	NP_000480.3:p.Gln2452Leu
NM_138270.5:c.7241A>T	NP_612114.2:p.Gln2414Leu