Canonical Allele Identifier: CA413707339

Gene: ATRX

Linked Data

• gnomAD v4: X-77520883-C-T
• MyVariant Identifiers: chrX:g.76776361C>T (hg19) ; chrX:g.77520883C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77520883C>T , CM000685.2:g.77520883C>T	GRCh38
NC_000023.10:g.76776361C>T , CM000685.1:g.76776361C>T	GRCh37
NC_000023.9:g.76663017C>T	NCBI36
NG_008838.2:g.270339G>A
NG_008838.3:g.270387G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7105G>A MANE Select	ENSP00000362441.4:p.Val2369Ile
ENST00000675732.1:c.2203G>A	ENSP00000502598.1:p.Val735Ile
ENST00000373344.9:c.7105G>A	ENSP00000362441.4:p.Val2369Ile
ENST00000395603.7:c.6991G>A	ENSP00000378967.3:p.Val2331Ile
ENST00000480283.5:c.*6733G>A	ENSP00000480196.1:n.*6733G>A
ENST00000623706.3:n.5425G>A
ENST00000624766.1:n.336G>A
NM_000489.4:c.7105G>A	NP_000480.3:p.Val2369Ile
NM_138270.3:c.6991G>A	NP_612114.2:p.Val2331Ile
XM_005262153.3:c.7102G>A	XP_005262210.2:p.Val2368Ile
XM_005262154.3:c.7018G>A	XP_005262211.2:p.Val2340Ile
XM_005262155.3:c.6988G>A	XP_005262212.2:p.Val2330Ile
XM_005262156.3:c.6940G>A	XP_005262213.2:p.Val2314Ile
XM_005262157.3:c.6901G>A	XP_005262214.2:p.Val2301Ile
XM_006724666.2:c.6988G>A	XP_006724729.1:p.Val2330Ile
XM_006724667.2:c.6826G>A	XP_006724730.1:p.Val2276Ile
XR_938400.1:n.8697G>A
NM_000489.5:c.7105G>A	NP_000480.3:p.Val2369Ile
XM_005262153.5:c.7102G>A	XP_005262210.2:p.Val2368Ile
XM_005262154.5:c.7018G>A	XP_005262211.2:p.Val2340Ile
XM_005262155.4:c.6988G>A	XP_005262212.2:p.Val2330Ile
XM_005262156.4:c.6940G>A	XP_005262213.2:p.Val2314Ile
XM_005262157.5:c.6901G>A	XP_005262214.2:p.Val2301Ile
XM_006724666.4:c.6988G>A	XP_006724729.1:p.Val2330Ile
XM_006724667.3:c.6826G>A	XP_006724730.1:p.Val2276Ile
XM_017029601.2:c.7015G>A	XP_016885090.1:p.Val2339Ile
XM_017029602.1:c.6985G>A	XP_016885091.1:p.Val2329Ile
XM_017029603.1:c.6937G>A	XP_016885092.1:p.Val2313Ile
XM_017029604.2:c.6904G>A	XP_016885093.1:p.Val2302Ile
XM_017029605.1:c.6901G>A	XP_016885094.1:p.Val2301Ile
XM_017029606.2:c.6874G>A	XP_016885095.1:p.Val2292Ile
XM_017029607.2:c.6871G>A	XP_016885096.1:p.Val2291Ile
XM_017029608.2:c.6823G>A	XP_016885097.1:p.Val2275Ile
XM_017029609.1:c.6787G>A	XP_016885098.1:p.Val2263Ile
XM_017029610.1:c.6784G>A	XP_016885099.1:p.Val2262Ile
XM_017029611.1:c.6739G>A	XP_016885100.1:p.Val2247Ile
XR_001755700.2:n.7404G>A
NM_138270.4:c.6991G>A	NP_612114.2:p.Val2331Ile
NM_000489.6:c.7105G>A MANE Select	NP_000480.3:p.Val2369Ile
NM_138270.5:c.6991G>A	NP_612114.2:p.Val2331Ile