Canonical Allele Identifier: CA413704190

Gene: ATRX

Linked Data

• dbSNP Id: rs2147648567
• MyVariant Identifiers: chrX:g.76763954G>T (hg19) ; chrX:g.77508476G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508476G>T , CM000685.2:g.77508476G>T	GRCh38
NC_000023.10:g.76763954G>T , CM000685.1:g.76763954G>T	GRCh37
NC_000023.9:g.76650610G>T	NCBI36
NG_008838.2:g.282746C>A
NG_008838.3:g.282794C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7354C>A MANE Select	ENSP00000362441.4:p.Gln2452Lys
ENST00000675732.1:c.2452C>A	ENSP00000502598.1:p.Gln818Lys
ENST00000373344.9:c.7354C>A	ENSP00000362441.4:p.Gln2452Lys
ENST00000395603.7:c.7240C>A	ENSP00000378967.3:p.Gln2414Lys
ENST00000480283.5:c.*6982C>A	ENSP00000480196.1:n.*6982C>A
ENST00000623706.3:n.5674C>A
NM_000489.4:c.7354C>A	NP_000480.3:p.Gln2452Lys
NM_138270.3:c.7240C>A	NP_612114.2:p.Gln2414Lys
XM_005262153.3:c.7351C>A	XP_005262210.2:p.Gln2451Lys
XM_005262154.3:c.7267C>A	XP_005262211.2:p.Gln2423Lys
XM_005262155.3:c.7237C>A	XP_005262212.2:p.Gln2413Lys
XM_005262156.3:c.7189C>A	XP_005262213.2:p.Gln2397Lys
XM_005262157.3:c.7150C>A	XP_005262214.2:p.Gln2384Lys
XM_006724666.2:c.7237C>A	XP_006724729.1:p.Gln2413Lys
XM_006724667.2:c.7075C>A	XP_006724730.1:p.Gln2359Lys
XR_938400.1:n.8946C>A
NM_000489.5:c.7354C>A	NP_000480.3:p.Gln2452Lys
XM_005262153.5:c.7351C>A	XP_005262210.2:p.Gln2451Lys
XM_005262154.5:c.7267C>A	XP_005262211.2:p.Gln2423Lys
XM_005262155.4:c.7237C>A	XP_005262212.2:p.Gln2413Lys
XM_005262156.4:c.7189C>A	XP_005262213.2:p.Gln2397Lys
XM_005262157.5:c.7150C>A	XP_005262214.2:p.Gln2384Lys
XM_006724666.4:c.7237C>A	XP_006724729.1:p.Gln2413Lys
XM_006724667.3:c.7075C>A	XP_006724730.1:p.Gln2359Lys
XM_017029601.2:c.7264C>A	XP_016885090.1:p.Gln2422Lys
XM_017029602.1:c.7234C>A	XP_016885091.1:p.Gln2412Lys
XM_017029603.1:c.7186C>A	XP_016885092.1:p.Gln2396Lys
XM_017029604.2:c.7153C>A	XP_016885093.1:p.Gln2385Lys
XM_017029605.1:c.7150C>A	XP_016885094.1:p.Gln2384Lys
XM_017029606.2:c.7123C>A	XP_016885095.1:p.Gln2375Lys
XM_017029607.2:c.7120C>A	XP_016885096.1:p.Gln2374Lys
XM_017029608.2:c.7072C>A	XP_016885097.1:p.Gln2358Lys
XM_017029609.1:c.7036C>A	XP_016885098.1:p.Gln2346Lys
XM_017029610.1:c.7033C>A	XP_016885099.1:p.Gln2345Lys
XM_017029611.1:c.6988C>A	XP_016885100.1:p.Gln2330Lys
XR_001755700.2:n.7653C>A
NM_138270.4:c.7240C>A	NP_612114.2:p.Gln2414Lys
NM_000489.6:c.7354C>A MANE Select	NP_000480.3:p.Gln2452Lys
NM_138270.5:c.7240C>A	NP_612114.2:p.Gln2414Lys