Canonical Allele Identifier: CA10457375

Gene: ATRX

Linked Data

• ClinVar Variation Id: 991719
• ClinVar RCV Id: RCV001279979 ; RCV001776168
• dbSNP Id: rs369871569
• ExAC: X:76763869 C / T
• gnomAD v2: X-76763869-C-T
• gnomAD v3: X-77508391-C-T
• gnomAD v4: X-77508391-C-T
• MyVariant Identifiers: chrX:g.76763869C>T (hg19) ; chrX:g.77508391C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508391C>T , CM000685.2:g.77508391C>T	GRCh38
NC_000023.10:g.76763869C>T , CM000685.1:g.76763869C>T	GRCh37
NC_000023.9:g.76650525C>T	NCBI36
NG_008838.2:g.282831G>A
NG_008838.3:g.282879G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7439G>A MANE Select	ENSP00000362441.4:p.Arg2480Lys
ENST00000675732.1:c.2537G>A	ENSP00000502598.1:p.Arg846Lys
ENST00000373344.9:c.7439G>A	ENSP00000362441.4:p.Arg2480Lys
ENST00000395603.7:c.7325G>A	ENSP00000378967.3:p.Arg2442Lys
ENST00000480283.5:c.*7067G>A	ENSP00000480196.1:n.*7067G>A
ENST00000623706.3:n.5759G>A
NM_000489.4:c.7439G>A	NP_000480.3:p.Arg2480Lys
NM_138270.3:c.7325G>A	NP_612114.2:p.Arg2442Lys
XM_005262153.3:c.7436G>A	XP_005262210.2:p.Arg2479Lys
XM_005262154.3:c.7352G>A	XP_005262211.2:p.Arg2451Lys
XM_005262155.3:c.7322G>A	XP_005262212.2:p.Arg2441Lys
XM_005262156.3:c.7274G>A	XP_005262213.2:p.Arg2425Lys
XM_005262157.3:c.7235G>A	XP_005262214.2:p.Arg2412Lys
XM_006724666.2:c.7322G>A	XP_006724729.1:p.Arg2441Lys
XM_006724667.2:c.7160G>A	XP_006724730.1:p.Arg2387Lys
XR_938400.1:n.9031G>A
NM_000489.5:c.7439G>A	NP_000480.3:p.Arg2480Lys
XM_005262153.5:c.7436G>A	XP_005262210.2:p.Arg2479Lys
XM_005262154.5:c.7352G>A	XP_005262211.2:p.Arg2451Lys
XM_005262155.4:c.7322G>A	XP_005262212.2:p.Arg2441Lys
XM_005262156.4:c.7274G>A	XP_005262213.2:p.Arg2425Lys
XM_005262157.5:c.7235G>A	XP_005262214.2:p.Arg2412Lys
XM_006724666.4:c.7322G>A	XP_006724729.1:p.Arg2441Lys
XM_006724667.3:c.7160G>A	XP_006724730.1:p.Arg2387Lys
XM_017029601.2:c.7349G>A	XP_016885090.1:p.Arg2450Lys
XM_017029602.1:c.7319G>A	XP_016885091.1:p.Arg2440Lys
XM_017029603.1:c.7271G>A	XP_016885092.1:p.Arg2424Lys
XM_017029604.2:c.7238G>A	XP_016885093.1:p.Arg2413Lys
XM_017029605.1:c.7235G>A	XP_016885094.1:p.Arg2412Lys
XM_017029606.2:c.7208G>A	XP_016885095.1:p.Arg2403Lys
XM_017029607.2:c.7205G>A	XP_016885096.1:p.Arg2402Lys
XM_017029608.2:c.7157G>A	XP_016885097.1:p.Arg2386Lys
XM_017029609.1:c.7121G>A	XP_016885098.1:p.Arg2374Lys
XM_017029610.1:c.7118G>A	XP_016885099.1:p.Arg2373Lys
XM_017029611.1:c.7073G>A	XP_016885100.1:p.Arg2358Lys
XR_001755700.2:n.7738G>A
NM_138270.4:c.7325G>A	NP_612114.2:p.Arg2442Lys
NM_000489.6:c.7439G>A MANE Select	NP_000480.3:p.Arg2480Lys
NM_138270.5:c.7325G>A	NP_612114.2:p.Arg2442Lys