Canonical Allele Identifier: CA517374819

Gene: ATRX

Linked Data

• ClinVar Variation Id: 465064
• ClinVar RCV Id: RCV001486648
• dbSNP Id: rs1557069232
• gnomAD v2: X-76829801-G-A
• gnomAD v4: X-77574336-G-A
• MyVariant Identifiers: chrX:g.76829801G>A (hg19) ; chrX:g.77574336G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574336G>A , CM000685.2:g.77574336G>A	GRCh38
NC_000023.10:g.76829801G>A , CM000685.1:g.76829801G>A	GRCh37
NC_000023.9:g.76716457G>A	NCBI36
NG_008838.2:g.216886C>T
NG_008838.3:g.216934C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6240C>T MANE Select	ENSP00000362441.4:p.Asn2080=
ENST00000636152.1:n.75C>T
ENST00000675732.1:c.1338C>T	ENSP00000502598.1:p.Asn446=
ENST00000373344.9:c.6240C>T	ENSP00000362441.4:p.Asn2080=
ENST00000395603.7:c.6126C>T	ENSP00000378967.3:p.Asn2042=
ENST00000480283.5:c.*5868C>T	ENSP00000480196.1:n.*5868C>T
ENST00000623316.1:c.724C>T
ENST00000623706.3:n.3310C>T
NM_000489.4:c.6240C>T	NP_000480.3:p.Asn2080=
NM_138270.3:c.6126C>T	NP_612114.2:p.Asn2042=
XM_005262153.3:c.6237C>T	XP_005262210.2:p.Asn2079=
XM_005262154.3:c.6153C>T	XP_005262211.2:p.Asn2051=
XM_005262155.3:c.6123C>T	XP_005262212.2:p.Asn2041=
XM_005262156.3:c.6075C>T	XP_005262213.2:p.Asn2025=
XM_005262157.3:c.6036C>T	XP_005262214.2:p.Asn2012=
XM_006724666.2:c.6123C>T	XP_006724729.1:p.Asn2041=
XM_006724667.2:c.5961C>T	XP_006724730.1:p.Asn1987=
XR_938400.1:n.6582C>T
NM_000489.5:c.6240C>T	NP_000480.3:p.Asn2080=
XM_005262153.5:c.6237C>T	XP_005262210.2:p.Asn2079=
XM_005262154.5:c.6153C>T	XP_005262211.2:p.Asn2051=
XM_005262155.4:c.6123C>T	XP_005262212.2:p.Asn2041=
XM_005262156.4:c.6075C>T	XP_005262213.2:p.Asn2025=
XM_005262157.5:c.6036C>T	XP_005262214.2:p.Asn2012=
XM_006724666.4:c.6123C>T	XP_006724729.1:p.Asn2041=
XM_006724667.3:c.5961C>T	XP_006724730.1:p.Asn1987=
XM_017029601.2:c.6150C>T	XP_016885090.1:p.Asn2050=
XM_017029602.1:c.6120C>T	XP_016885091.1:p.Asn2040=
XM_017029603.1:c.6072C>T	XP_016885092.1:p.Asn2024=
XM_017029604.2:c.6039C>T	XP_016885093.1:p.Asn2013=
XM_017029605.1:c.6036C>T	XP_016885094.1:p.Asn2012=
XM_017029606.2:c.6009C>T	XP_016885095.1:p.Asn2003=
XM_017029607.2:c.6006C>T	XP_016885096.1:p.Asn2002=
XM_017029608.2:c.5958C>T	XP_016885097.1:p.Asn1986=
XM_017029609.1:c.5922C>T	XP_016885098.1:p.Asn1974=
XM_017029610.1:c.5919C>T	XP_016885099.1:p.Asn1973=
XM_017029611.1:c.5874C>T	XP_016885100.1:p.Asn1958=
XR_001755700.2:n.6539C>T
NM_138270.4:c.6126C>T	NP_612114.2:p.Asn2042=
NM_000489.6:c.6240C>T MANE Select	NP_000480.3:p.Asn2080=
NM_138270.5:c.6126C>T	NP_612114.2:p.Asn2042=