Canonical Allele Identifier: CA10457393

Gene: ATRX

Linked Data

• ClinVar Variation Id: 2853635
• ClinVar RCV Id: RCV003625897
• dbSNP Id: rs781817460
• ExAC: X:76763973 G / T
• gnomAD v2: X-76763973-G-T
• gnomAD v4: X-77508495-G-T
• MyVariant Identifiers: chrX:g.76763973G>T (hg19) ; chrX:g.77508495G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508495G>T , CM000685.2:g.77508495G>T	GRCh38
NC_000023.10:g.76763973G>T , CM000685.1:g.76763973G>T	GRCh37
NC_000023.9:g.76650629G>T	NCBI36
NG_008838.2:g.282727C>A
NG_008838.3:g.282775C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7335C>A MANE Select	ENSP00000362441.4:p.Ile2445=
ENST00000675732.1:c.2433C>A	ENSP00000502598.1:p.Ile811=
ENST00000373344.9:c.7335C>A	ENSP00000362441.4:p.Ile2445=
ENST00000395603.7:c.7221C>A	ENSP00000378967.3:p.Ile2407=
ENST00000480283.5:c.*6963C>A	ENSP00000480196.1:n.*6963C>A
ENST00000623706.3:n.5655C>A
ENST00000624766.1:n.566C>A
NM_000489.4:c.7335C>A	NP_000480.3:p.Ile2445=
NM_138270.3:c.7221C>A	NP_612114.2:p.Ile2407=
XM_005262153.3:c.7332C>A	XP_005262210.2:p.Ile2444=
XM_005262154.3:c.7248C>A	XP_005262211.2:p.Ile2416=
XM_005262155.3:c.7218C>A	XP_005262212.2:p.Ile2406=
XM_005262156.3:c.7170C>A	XP_005262213.2:p.Ile2390=
XM_005262157.3:c.7131C>A	XP_005262214.2:p.Ile2377=
XM_006724666.2:c.7218C>A	XP_006724729.1:p.Ile2406=
XM_006724667.2:c.7056C>A	XP_006724730.1:p.Ile2352=
XR_938400.1:n.8927C>A
NM_000489.5:c.7335C>A	NP_000480.3:p.Ile2445=
XM_005262153.5:c.7332C>A	XP_005262210.2:p.Ile2444=
XM_005262154.5:c.7248C>A	XP_005262211.2:p.Ile2416=
XM_005262155.4:c.7218C>A	XP_005262212.2:p.Ile2406=
XM_005262156.4:c.7170C>A	XP_005262213.2:p.Ile2390=
XM_005262157.5:c.7131C>A	XP_005262214.2:p.Ile2377=
XM_006724666.4:c.7218C>A	XP_006724729.1:p.Ile2406=
XM_006724667.3:c.7056C>A	XP_006724730.1:p.Ile2352=
XM_017029601.2:c.7245C>A	XP_016885090.1:p.Ile2415=
XM_017029602.1:c.7215C>A	XP_016885091.1:p.Ile2405=
XM_017029603.1:c.7167C>A	XP_016885092.1:p.Ile2389=
XM_017029604.2:c.7134C>A	XP_016885093.1:p.Ile2378=
XM_017029605.1:c.7131C>A	XP_016885094.1:p.Ile2377=
XM_017029606.2:c.7104C>A	XP_016885095.1:p.Ile2368=
XM_017029607.2:c.7101C>A	XP_016885096.1:p.Ile2367=
XM_017029608.2:c.7053C>A	XP_016885097.1:p.Ile2351=
XM_017029609.1:c.7017C>A	XP_016885098.1:p.Ile2339=
XM_017029610.1:c.7014C>A	XP_016885099.1:p.Ile2338=
XM_017029611.1:c.6969C>A	XP_016885100.1:p.Ile2323=
XR_001755700.2:n.7634C>A
NM_138270.4:c.7221C>A	NP_612114.2:p.Ile2407=
NM_000489.6:c.7335C>A MANE Select	NP_000480.3:p.Ile2445=
NM_138270.5:c.7221C>A	NP_612114.2:p.Ile2407=