Canonical Allele Identifier: CA413703989

Gene: ATRX

Linked Data

• ClinVar Variation Id: 2170155
• ClinVar RCV Id: RCV003088533
• dbSNP Id: rs1161899862
• gnomAD v2: X-76763924-G-T
• gnomAD v3: X-77508446-G-T
• gnomAD v4: X-77508446-G-T
• MyVariant Identifiers: chrX:g.76763924G>T (hg19) ; chrX:g.77508446G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508446G>T , CM000685.2:g.77508446G>T	GRCh38
NC_000023.10:g.76763924G>T , CM000685.1:g.76763924G>T	GRCh37
NC_000023.9:g.76650580G>T	NCBI36
NG_008838.2:g.282776C>A
NG_008838.3:g.282824C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7384C>A MANE Select	ENSP00000362441.4:p.Pro2462Thr
ENST00000675732.1:c.2482C>A	ENSP00000502598.1:p.Pro828Thr
ENST00000373344.9:c.7384C>A	ENSP00000362441.4:p.Pro2462Thr
ENST00000395603.7:c.7270C>A	ENSP00000378967.3:p.Pro2424Thr
ENST00000480283.5:c.*7012C>A	ENSP00000480196.1:n.*7012C>A
ENST00000623706.3:n.5704C>A
NM_000489.4:c.7384C>A	NP_000480.3:p.Pro2462Thr
NM_138270.3:c.7270C>A	NP_612114.2:p.Pro2424Thr
XM_005262153.3:c.7381C>A	XP_005262210.2:p.Pro2461Thr
XM_005262154.3:c.7297C>A	XP_005262211.2:p.Pro2433Thr
XM_005262155.3:c.7267C>A	XP_005262212.2:p.Pro2423Thr
XM_005262156.3:c.7219C>A	XP_005262213.2:p.Pro2407Thr
XM_005262157.3:c.7180C>A	XP_005262214.2:p.Pro2394Thr
XM_006724666.2:c.7267C>A	XP_006724729.1:p.Pro2423Thr
XM_006724667.2:c.7105C>A	XP_006724730.1:p.Pro2369Thr
XR_938400.1:n.8976C>A
NM_000489.5:c.7384C>A	NP_000480.3:p.Pro2462Thr
XM_005262153.5:c.7381C>A	XP_005262210.2:p.Pro2461Thr
XM_005262154.5:c.7297C>A	XP_005262211.2:p.Pro2433Thr
XM_005262155.4:c.7267C>A	XP_005262212.2:p.Pro2423Thr
XM_005262156.4:c.7219C>A	XP_005262213.2:p.Pro2407Thr
XM_005262157.5:c.7180C>A	XP_005262214.2:p.Pro2394Thr
XM_006724666.4:c.7267C>A	XP_006724729.1:p.Pro2423Thr
XM_006724667.3:c.7105C>A	XP_006724730.1:p.Pro2369Thr
XM_017029601.2:c.7294C>A	XP_016885090.1:p.Pro2432Thr
XM_017029602.1:c.7264C>A	XP_016885091.1:p.Pro2422Thr
XM_017029603.1:c.7216C>A	XP_016885092.1:p.Pro2406Thr
XM_017029604.2:c.7183C>A	XP_016885093.1:p.Pro2395Thr
XM_017029605.1:c.7180C>A	XP_016885094.1:p.Pro2394Thr
XM_017029606.2:c.7153C>A	XP_016885095.1:p.Pro2385Thr
XM_017029607.2:c.7150C>A	XP_016885096.1:p.Pro2384Thr
XM_017029608.2:c.7102C>A	XP_016885097.1:p.Pro2368Thr
XM_017029609.1:c.7066C>A	XP_016885098.1:p.Pro2356Thr
XM_017029610.1:c.7063C>A	XP_016885099.1:p.Pro2355Thr
XM_017029611.1:c.7018C>A	XP_016885100.1:p.Pro2340Thr
XR_001755700.2:n.7683C>A
NM_138270.4:c.7270C>A	NP_612114.2:p.Pro2424Thr
NM_000489.6:c.7384C>A MANE Select	NP_000480.3:p.Pro2462Thr
NM_138270.5:c.7270C>A	NP_612114.2:p.Pro2424Thr