Canonical Allele Identifier: CA413704670

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76764014T>G (hg19) ; chrX:g.77508536T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508536T>G , CM000685.2:g.77508536T>G	GRCh38
NC_000023.10:g.76764014T>G , CM000685.1:g.76764014T>G	GRCh37
NC_000023.9:g.76650670T>G	NCBI36
NG_008838.2:g.282686A>C
NG_008838.3:g.282734A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7294A>C MANE Select	ENSP00000362441.4:p.Thr2432Pro
ENST00000675732.1:c.2392A>C	ENSP00000502598.1:p.Thr798Pro
ENST00000373344.9:c.7294A>C	ENSP00000362441.4:p.Thr2432Pro
ENST00000395603.7:c.7180A>C	ENSP00000378967.3:p.Thr2394Pro
ENST00000480283.5:c.*6922A>C	ENSP00000480196.1:n.*6922A>C
ENST00000623706.3:n.5614A>C
ENST00000624766.1:n.525A>C
NM_000489.4:c.7294A>C	NP_000480.3:p.Thr2432Pro
NM_138270.3:c.7180A>C	NP_612114.2:p.Thr2394Pro
XM_005262153.3:c.7291A>C	XP_005262210.2:p.Thr2431Pro
XM_005262154.3:c.7207A>C	XP_005262211.2:p.Thr2403Pro
XM_005262155.3:c.7177A>C	XP_005262212.2:p.Thr2393Pro
XM_005262156.3:c.7129A>C	XP_005262213.2:p.Thr2377Pro
XM_005262157.3:c.7090A>C	XP_005262214.2:p.Thr2364Pro
XM_006724666.2:c.7177A>C	XP_006724729.1:p.Thr2393Pro
XM_006724667.2:c.7015A>C	XP_006724730.1:p.Thr2339Pro
XR_938400.1:n.8886A>C
NM_000489.5:c.7294A>C	NP_000480.3:p.Thr2432Pro
XM_005262153.5:c.7291A>C	XP_005262210.2:p.Thr2431Pro
XM_005262154.5:c.7207A>C	XP_005262211.2:p.Thr2403Pro
XM_005262155.4:c.7177A>C	XP_005262212.2:p.Thr2393Pro
XM_005262156.4:c.7129A>C	XP_005262213.2:p.Thr2377Pro
XM_005262157.5:c.7090A>C	XP_005262214.2:p.Thr2364Pro
XM_006724666.4:c.7177A>C	XP_006724729.1:p.Thr2393Pro
XM_006724667.3:c.7015A>C	XP_006724730.1:p.Thr2339Pro
XM_017029601.2:c.7204A>C	XP_016885090.1:p.Thr2402Pro
XM_017029602.1:c.7174A>C	XP_016885091.1:p.Thr2392Pro
XM_017029603.1:c.7126A>C	XP_016885092.1:p.Thr2376Pro
XM_017029604.2:c.7093A>C	XP_016885093.1:p.Thr2365Pro
XM_017029605.1:c.7090A>C	XP_016885094.1:p.Thr2364Pro
XM_017029606.2:c.7063A>C	XP_016885095.1:p.Thr2355Pro
XM_017029607.2:c.7060A>C	XP_016885096.1:p.Thr2354Pro
XM_017029608.2:c.7012A>C	XP_016885097.1:p.Thr2338Pro
XM_017029609.1:c.6976A>C	XP_016885098.1:p.Thr2326Pro
XM_017029610.1:c.6973A>C	XP_016885099.1:p.Thr2325Pro
XM_017029611.1:c.6928A>C	XP_016885100.1:p.Thr2310Pro
XR_001755700.2:n.7593A>C
NM_138270.4:c.7180A>C	NP_612114.2:p.Thr2394Pro
NM_000489.6:c.7294A>C MANE Select	NP_000480.3:p.Thr2432Pro
NM_138270.5:c.7180A>C	NP_612114.2:p.Thr2394Pro