Canonical Allele Identifier: CA517374091

Gene: ATRX

Linked Data

• ClinVar Variation Id: 1127595
• ClinVar RCV Id: RCV001460095
• dbSNP Id: rs2147648778
• gnomAD v4: X-77508480-G-A
• MyVariant Identifiers: chrX:g.76763958G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508480G>A , CM000685.2:g.77508480G>A	GRCh38
NC_000023.10:g.76763958G>A , CM000685.1:g.76763958G>A	GRCh37
NC_000023.9:g.76650614G>A	NCBI36
NG_008838.2:g.282742C>T
NG_008838.3:g.282790C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000373344.11:c.7350C>T MANE Select	ENSP00000362441.4:p.Asn2450=
ENST00000675732.1:c.2448C>T	ENSP00000502598.1:p.Asn816=
ENST00000373344.9:c.7350C>T	ENSP00000362441.4:p.Asn2450=
ENST00000395603.7:c.7236C>T	ENSP00000378967.3:p.Asn2412=
ENST00000480283.5:c.*6978C>T	ENSP00000480196.1:n.*6978C>T
ENST00000623706.3:n.5670C>T
NM_000489.4:c.7350C>T	NP_000480.3:p.Asn2450=
NM_138270.3:c.7236C>T	NP_612114.2:p.Asn2412=
XM_005262153.3:c.7347C>T	XP_005262210.2:p.Asn2449=
XM_005262154.3:c.7263C>T	XP_005262211.2:p.Asn2421=
XM_005262155.3:c.7233C>T	XP_005262212.2:p.Asn2411=
XM_005262156.3:c.7185C>T	XP_005262213.2:p.Asn2395=
XM_005262157.3:c.7146C>T	XP_005262214.2:p.Asn2382=
XM_006724666.2:c.7233C>T	XP_006724729.1:p.Asn2411=
XM_006724667.2:c.7071C>T	XP_006724730.1:p.Asn2357=
XR_938400.1:n.8942C>T
NM_000489.5:c.7350C>T	NP_000480.3:p.Asn2450=
XM_005262153.5:c.7347C>T	XP_005262210.2:p.Asn2449=
XM_005262154.5:c.7263C>T	XP_005262211.2:p.Asn2421=
XM_005262155.4:c.7233C>T	XP_005262212.2:p.Asn2411=
XM_005262156.4:c.7185C>T	XP_005262213.2:p.Asn2395=
XM_005262157.5:c.7146C>T	XP_005262214.2:p.Asn2382=
XM_006724666.4:c.7233C>T	XP_006724729.1:p.Asn2411=
XM_006724667.3:c.7071C>T	XP_006724730.1:p.Asn2357=
XM_017029601.2:c.7260C>T	XP_016885090.1:p.Asn2420=
XM_017029602.1:c.7230C>T	XP_016885091.1:p.Asn2410=
XM_017029603.1:c.7182C>T	XP_016885092.1:p.Asn2394=
XM_017029604.2:c.7149C>T	XP_016885093.1:p.Asn2383=
XM_017029605.1:c.7146C>T	XP_016885094.1:p.Asn2382=
XM_017029606.2:c.7119C>T	XP_016885095.1:p.Asn2373=
XM_017029607.2:c.7116C>T	XP_016885096.1:p.Asn2372=
XM_017029608.2:c.7068C>T	XP_016885097.1:p.Asn2356=
XM_017029609.1:c.7032C>T	XP_016885098.1:p.Asn2344=
XM_017029610.1:c.7029C>T	XP_016885099.1:p.Asn2343=
XM_017029611.1:c.6984C>T	XP_016885100.1:p.Asn2328=
XR_001755700.2:n.7649C>T
NM_138270.4:c.7236C>T	NP_612114.2:p.Asn2412=
NM_000489.6:c.7350C>T MANE Select	NP_000480.3:p.Asn2450=
NM_138270.5:c.7236C>T	NP_612114.2:p.Asn2412=