Canonical Allele Identifier: CA413704026

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763930A>G (hg19) ; chrX:g.77508452A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508452A>G , CM000685.2:g.77508452A>G	GRCh38
NC_000023.10:g.76763930A>G , CM000685.1:g.76763930A>G	GRCh37
NC_000023.9:g.76650586A>G	NCBI36
NG_008838.2:g.282770T>C
NG_008838.3:g.282818T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7378T>C MANE Select	ENSP00000362441.4:p.Tyr2460His
ENST00000675732.1:c.2476T>C	ENSP00000502598.1:p.Tyr826His
ENST00000373344.9:c.7378T>C	ENSP00000362441.4:p.Tyr2460His
ENST00000395603.7:c.7264T>C	ENSP00000378967.3:p.Tyr2422His
ENST00000480283.5:c.*7006T>C	ENSP00000480196.1:n.*7006T>C
ENST00000623706.3:n.5698T>C
NM_000489.4:c.7378T>C	NP_000480.3:p.Tyr2460His
NM_138270.3:c.7264T>C	NP_612114.2:p.Tyr2422His
XM_005262153.3:c.7375T>C	XP_005262210.2:p.Tyr2459His
XM_005262154.3:c.7291T>C	XP_005262211.2:p.Tyr2431His
XM_005262155.3:c.7261T>C	XP_005262212.2:p.Tyr2421His
XM_005262156.3:c.7213T>C	XP_005262213.2:p.Tyr2405His
XM_005262157.3:c.7174T>C	XP_005262214.2:p.Tyr2392His
XM_006724666.2:c.7261T>C	XP_006724729.1:p.Tyr2421His
XM_006724667.2:c.7099T>C	XP_006724730.1:p.Tyr2367His
XR_938400.1:n.8970T>C
NM_000489.5:c.7378T>C	NP_000480.3:p.Tyr2460His
XM_005262153.5:c.7375T>C	XP_005262210.2:p.Tyr2459His
XM_005262154.5:c.7291T>C	XP_005262211.2:p.Tyr2431His
XM_005262155.4:c.7261T>C	XP_005262212.2:p.Tyr2421His
XM_005262156.4:c.7213T>C	XP_005262213.2:p.Tyr2405His
XM_005262157.5:c.7174T>C	XP_005262214.2:p.Tyr2392His
XM_006724666.4:c.7261T>C	XP_006724729.1:p.Tyr2421His
XM_006724667.3:c.7099T>C	XP_006724730.1:p.Tyr2367His
XM_017029601.2:c.7288T>C	XP_016885090.1:p.Tyr2430His
XM_017029602.1:c.7258T>C	XP_016885091.1:p.Tyr2420His
XM_017029603.1:c.7210T>C	XP_016885092.1:p.Tyr2404His
XM_017029604.2:c.7177T>C	XP_016885093.1:p.Tyr2393His
XM_017029605.1:c.7174T>C	XP_016885094.1:p.Tyr2392His
XM_017029606.2:c.7147T>C	XP_016885095.1:p.Tyr2383His
XM_017029607.2:c.7144T>C	XP_016885096.1:p.Tyr2382His
XM_017029608.2:c.7096T>C	XP_016885097.1:p.Tyr2366His
XM_017029609.1:c.7060T>C	XP_016885098.1:p.Tyr2354His
XM_017029610.1:c.7057T>C	XP_016885099.1:p.Tyr2353His
XM_017029611.1:c.7012T>C	XP_016885100.1:p.Tyr2338His
XR_001755700.2:n.7677T>C
NM_138270.4:c.7264T>C	NP_612114.2:p.Tyr2422His
NM_000489.6:c.7378T>C MANE Select	NP_000480.3:p.Tyr2460His
NM_138270.5:c.7264T>C	NP_612114.2:p.Tyr2422His