Canonical Allele Identifier: CA10457390

Gene: ATRX

Linked Data

• dbSNP Id: rs782020537
• ExAC: X:76763915 C / T
• gnomAD v2: X-76763915-C-T
• MyVariant Identifiers: chrX:g.76763915C>T (hg19) ; chrX:g.77508437C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7393G>A MANE Select	ENSP00000362441.4:p.Gly2465Ser
ENST00000675732.1:c.2491G>A	ENSP00000502598.1:p.Gly831Ser
ENST00000373344.9:c.7393G>A	ENSP00000362441.4:p.Gly2465Ser
ENST00000395603.7:c.7279G>A	ENSP00000378967.3:p.Gly2427Ser
ENST00000480283.5:c.*7021G>A	ENSP00000480196.1:n.*7021G>A
ENST00000623706.3:n.5713G>A
NM_000489.4:c.7393G>A	NP_000480.3:p.Gly2465Ser
NM_138270.3:c.7279G>A	NP_612114.2:p.Gly2427Ser
XM_005262153.3:c.7390G>A	XP_005262210.2:p.Gly2464Ser
XM_005262154.3:c.7306G>A	XP_005262211.2:p.Gly2436Ser
XM_005262155.3:c.7276G>A	XP_005262212.2:p.Gly2426Ser
XM_005262156.3:c.7228G>A	XP_005262213.2:p.Gly2410Ser
XM_005262157.3:c.7189G>A	XP_005262214.2:p.Gly2397Ser
XM_006724666.2:c.7276G>A	XP_006724729.1:p.Gly2426Ser
XM_006724667.2:c.7114G>A	XP_006724730.1:p.Gly2372Ser
XR_938400.1:n.8985G>A
NM_000489.5:c.7393G>A	NP_000480.3:p.Gly2465Ser
XM_005262153.5:c.7390G>A	XP_005262210.2:p.Gly2464Ser
XM_005262154.5:c.7306G>A	XP_005262211.2:p.Gly2436Ser
XM_005262155.4:c.7276G>A	XP_005262212.2:p.Gly2426Ser
XM_005262156.4:c.7228G>A	XP_005262213.2:p.Gly2410Ser
XM_005262157.5:c.7189G>A	XP_005262214.2:p.Gly2397Ser
XM_006724666.4:c.7276G>A	XP_006724729.1:p.Gly2426Ser
XM_006724667.3:c.7114G>A	XP_006724730.1:p.Gly2372Ser
XM_017029601.2:c.7303G>A	XP_016885090.1:p.Gly2435Ser
XM_017029602.1:c.7273G>A	XP_016885091.1:p.Gly2425Ser
XM_017029603.1:c.7225G>A	XP_016885092.1:p.Gly2409Ser
XM_017029604.2:c.7192G>A	XP_016885093.1:p.Gly2398Ser
XM_017029605.1:c.7189G>A	XP_016885094.1:p.Gly2397Ser
XM_017029606.2:c.7162G>A	XP_016885095.1:p.Gly2388Ser
XM_017029607.2:c.7159G>A	XP_016885096.1:p.Gly2387Ser
XM_017029608.2:c.7111G>A	XP_016885097.1:p.Gly2371Ser
XM_017029609.1:c.7075G>A	XP_016885098.1:p.Gly2359Ser
XM_017029610.1:c.7072G>A	XP_016885099.1:p.Gly2358Ser
XM_017029611.1:c.7027G>A	XP_016885100.1:p.Gly2343Ser
XR_001755700.2:n.7692G>A
NM_138270.4:c.7279G>A	NP_612114.2:p.Gly2427Ser
NM_000489.6:c.7393G>A MANE Select	NP_000480.3:p.Gly2465Ser
NM_138270.5:c.7279G>A	NP_612114.2:p.Gly2427Ser