Canonical Allele Identifier: CA413703960

Gene: ATRX

Linked Data

• dbSNP Id: rs782020537
• MyVariant Identifiers: chrX:g.76763915C>A (hg19) ; chrX:g.77508437C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508437C>A , CM000685.2:g.77508437C>A	GRCh38
NC_000023.10:g.76763915C>A , CM000685.1:g.76763915C>A	GRCh37
NC_000023.9:g.76650571C>A	NCBI36
NG_008838.2:g.282785G>T
NG_008838.3:g.282833G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7393G>T MANE Select	ENSP00000362441.4:p.Gly2465Cys
ENST00000675732.1:c.2491G>T	ENSP00000502598.1:p.Gly831Cys
ENST00000373344.9:c.7393G>T	ENSP00000362441.4:p.Gly2465Cys
ENST00000395603.7:c.7279G>T	ENSP00000378967.3:p.Gly2427Cys
ENST00000480283.5:c.*7021G>T	ENSP00000480196.1:n.*7021G>T
ENST00000623706.3:n.5713G>T
NM_000489.4:c.7393G>T	NP_000480.3:p.Gly2465Cys
NM_138270.3:c.7279G>T	NP_612114.2:p.Gly2427Cys
XM_005262153.3:c.7390G>T	XP_005262210.2:p.Gly2464Cys
XM_005262154.3:c.7306G>T	XP_005262211.2:p.Gly2436Cys
XM_005262155.3:c.7276G>T	XP_005262212.2:p.Gly2426Cys
XM_005262156.3:c.7228G>T	XP_005262213.2:p.Gly2410Cys
XM_005262157.3:c.7189G>T	XP_005262214.2:p.Gly2397Cys
XM_006724666.2:c.7276G>T	XP_006724729.1:p.Gly2426Cys
XM_006724667.2:c.7114G>T	XP_006724730.1:p.Gly2372Cys
XR_938400.1:n.8985G>T
NM_000489.5:c.7393G>T	NP_000480.3:p.Gly2465Cys
XM_005262153.5:c.7390G>T	XP_005262210.2:p.Gly2464Cys
XM_005262154.5:c.7306G>T	XP_005262211.2:p.Gly2436Cys
XM_005262155.4:c.7276G>T	XP_005262212.2:p.Gly2426Cys
XM_005262156.4:c.7228G>T	XP_005262213.2:p.Gly2410Cys
XM_005262157.5:c.7189G>T	XP_005262214.2:p.Gly2397Cys
XM_006724666.4:c.7276G>T	XP_006724729.1:p.Gly2426Cys
XM_006724667.3:c.7114G>T	XP_006724730.1:p.Gly2372Cys
XM_017029601.2:c.7303G>T	XP_016885090.1:p.Gly2435Cys
XM_017029602.1:c.7273G>T	XP_016885091.1:p.Gly2425Cys
XM_017029603.1:c.7225G>T	XP_016885092.1:p.Gly2409Cys
XM_017029604.2:c.7192G>T	XP_016885093.1:p.Gly2398Cys
XM_017029605.1:c.7189G>T	XP_016885094.1:p.Gly2397Cys
XM_017029606.2:c.7162G>T	XP_016885095.1:p.Gly2388Cys
XM_017029607.2:c.7159G>T	XP_016885096.1:p.Gly2387Cys
XM_017029608.2:c.7111G>T	XP_016885097.1:p.Gly2371Cys
XM_017029609.1:c.7075G>T	XP_016885098.1:p.Gly2359Cys
XM_017029610.1:c.7072G>T	XP_016885099.1:p.Gly2358Cys
XM_017029611.1:c.7027G>T	XP_016885100.1:p.Gly2343Cys
XR_001755700.2:n.7692G>T
NM_138270.4:c.7279G>T	NP_612114.2:p.Gly2427Cys
NM_000489.6:c.7393G>T MANE Select	NP_000480.3:p.Gly2465Cys
NM_138270.5:c.7279G>T	NP_612114.2:p.Gly2427Cys