Canonical Allele Identifier: CA413704131

Gene: ATRX

Linked Data

• dbSNP Id: rs2147648345
• MyVariant Identifiers: chrX:g.76763945C>A (hg19) ; chrX:g.77508467C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508467C>A , CM000685.2:g.77508467C>A	GRCh38
NC_000023.10:g.76763945C>A , CM000685.1:g.76763945C>A	GRCh37
NC_000023.9:g.76650601C>A	NCBI36
NG_008838.2:g.282755G>T
NG_008838.3:g.282803G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7363G>T MANE Select	ENSP00000362441.4:p.Asp2455Tyr
ENST00000675732.1:c.2461G>T	ENSP00000502598.1:p.Asp821Tyr
ENST00000373344.9:c.7363G>T	ENSP00000362441.4:p.Asp2455Tyr
ENST00000395603.7:c.7249G>T	ENSP00000378967.3:p.Asp2417Tyr
ENST00000480283.5:c.*6991G>T	ENSP00000480196.1:n.*6991G>T
ENST00000623706.3:n.5683G>T
NM_000489.4:c.7363G>T	NP_000480.3:p.Asp2455Tyr
NM_138270.3:c.7249G>T	NP_612114.2:p.Asp2417Tyr
XM_005262153.3:c.7360G>T	XP_005262210.2:p.Asp2454Tyr
XM_005262154.3:c.7276G>T	XP_005262211.2:p.Asp2426Tyr
XM_005262155.3:c.7246G>T	XP_005262212.2:p.Asp2416Tyr
XM_005262156.3:c.7198G>T	XP_005262213.2:p.Asp2400Tyr
XM_005262157.3:c.7159G>T	XP_005262214.2:p.Asp2387Tyr
XM_006724666.2:c.7246G>T	XP_006724729.1:p.Asp2416Tyr
XM_006724667.2:c.7084G>T	XP_006724730.1:p.Asp2362Tyr
XR_938400.1:n.8955G>T
NM_000489.5:c.7363G>T	NP_000480.3:p.Asp2455Tyr
XM_005262153.5:c.7360G>T	XP_005262210.2:p.Asp2454Tyr
XM_005262154.5:c.7276G>T	XP_005262211.2:p.Asp2426Tyr
XM_005262155.4:c.7246G>T	XP_005262212.2:p.Asp2416Tyr
XM_005262156.4:c.7198G>T	XP_005262213.2:p.Asp2400Tyr
XM_005262157.5:c.7159G>T	XP_005262214.2:p.Asp2387Tyr
XM_006724666.4:c.7246G>T	XP_006724729.1:p.Asp2416Tyr
XM_006724667.3:c.7084G>T	XP_006724730.1:p.Asp2362Tyr
XM_017029601.2:c.7273G>T	XP_016885090.1:p.Asp2425Tyr
XM_017029602.1:c.7243G>T	XP_016885091.1:p.Asp2415Tyr
XM_017029603.1:c.7195G>T	XP_016885092.1:p.Asp2399Tyr
XM_017029604.2:c.7162G>T	XP_016885093.1:p.Asp2388Tyr
XM_017029605.1:c.7159G>T	XP_016885094.1:p.Asp2387Tyr
XM_017029606.2:c.7132G>T	XP_016885095.1:p.Asp2378Tyr
XM_017029607.2:c.7129G>T	XP_016885096.1:p.Asp2377Tyr
XM_017029608.2:c.7081G>T	XP_016885097.1:p.Asp2361Tyr
XM_017029609.1:c.7045G>T	XP_016885098.1:p.Asp2349Tyr
XM_017029610.1:c.7042G>T	XP_016885099.1:p.Asp2348Tyr
XM_017029611.1:c.6997G>T	XP_016885100.1:p.Asp2333Tyr
XR_001755700.2:n.7662G>T
NM_138270.4:c.7249G>T	NP_612114.2:p.Asp2417Tyr
NM_000489.6:c.7363G>T MANE Select	NP_000480.3:p.Asp2455Tyr
NM_138270.5:c.7249G>T	NP_612114.2:p.Asp2417Tyr