Canonical Allele Identifier: CA413703822

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763897G>T (hg19) ; chrX:g.77508419G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508419G>T , CM000685.2:g.77508419G>T	GRCh38
NC_000023.10:g.76763897G>T , CM000685.1:g.76763897G>T	GRCh37
NC_000023.9:g.76650553G>T	NCBI36
NG_008838.2:g.282803C>A
NG_008838.3:g.282851C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7411C>A MANE Select	ENSP00000362441.4:p.Pro2471Thr
ENST00000675732.1:c.2509C>A	ENSP00000502598.1:p.Pro837Thr
ENST00000373344.9:c.7411C>A	ENSP00000362441.4:p.Pro2471Thr
ENST00000395603.7:c.7297C>A	ENSP00000378967.3:p.Pro2433Thr
ENST00000480283.5:c.*7039C>A	ENSP00000480196.1:n.*7039C>A
ENST00000623706.3:n.5731C>A
NM_000489.4:c.7411C>A	NP_000480.3:p.Pro2471Thr
NM_138270.3:c.7297C>A	NP_612114.2:p.Pro2433Thr
XM_005262153.3:c.7408C>A	XP_005262210.2:p.Pro2470Thr
XM_005262154.3:c.7324C>A	XP_005262211.2:p.Pro2442Thr
XM_005262155.3:c.7294C>A	XP_005262212.2:p.Pro2432Thr
XM_005262156.3:c.7246C>A	XP_005262213.2:p.Pro2416Thr
XM_005262157.3:c.7207C>A	XP_005262214.2:p.Pro2403Thr
XM_006724666.2:c.7294C>A	XP_006724729.1:p.Pro2432Thr
XM_006724667.2:c.7132C>A	XP_006724730.1:p.Pro2378Thr
XR_938400.1:n.9003C>A
NM_000489.5:c.7411C>A	NP_000480.3:p.Pro2471Thr
XM_005262153.5:c.7408C>A	XP_005262210.2:p.Pro2470Thr
XM_005262154.5:c.7324C>A	XP_005262211.2:p.Pro2442Thr
XM_005262155.4:c.7294C>A	XP_005262212.2:p.Pro2432Thr
XM_005262156.4:c.7246C>A	XP_005262213.2:p.Pro2416Thr
XM_005262157.5:c.7207C>A	XP_005262214.2:p.Pro2403Thr
XM_006724666.4:c.7294C>A	XP_006724729.1:p.Pro2432Thr
XM_006724667.3:c.7132C>A	XP_006724730.1:p.Pro2378Thr
XM_017029601.2:c.7321C>A	XP_016885090.1:p.Pro2441Thr
XM_017029602.1:c.7291C>A	XP_016885091.1:p.Pro2431Thr
XM_017029603.1:c.7243C>A	XP_016885092.1:p.Pro2415Thr
XM_017029604.2:c.7210C>A	XP_016885093.1:p.Pro2404Thr
XM_017029605.1:c.7207C>A	XP_016885094.1:p.Pro2403Thr
XM_017029606.2:c.7180C>A	XP_016885095.1:p.Pro2394Thr
XM_017029607.2:c.7177C>A	XP_016885096.1:p.Pro2393Thr
XM_017029608.2:c.7129C>A	XP_016885097.1:p.Pro2377Thr
XM_017029609.1:c.7093C>A	XP_016885098.1:p.Pro2365Thr
XM_017029610.1:c.7090C>A	XP_016885099.1:p.Pro2364Thr
XM_017029611.1:c.7045C>A	XP_016885100.1:p.Pro2349Thr
XR_001755700.2:n.7710C>A
NM_138270.4:c.7297C>A	NP_612114.2:p.Pro2433Thr
NM_000489.6:c.7411C>A MANE Select	NP_000480.3:p.Pro2471Thr
NM_138270.5:c.7297C>A	NP_612114.2:p.Pro2433Thr