Canonical Allele Identifier: CA233498

Gene: ATRX

Linked Data

• ClinVar Variation Id: 166710
• ClinVar RCV Id: RCV000152814 ; RCV003624404
• dbSNP Id: rs797044495
• gnomAD v4: X-77523348-G-A
• MyVariant Identifiers: chrX:g.76778826G>A (hg19) ; chrX:g.77523348G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77523348G>A , CM000685.2:g.77523348G>A	GRCh38
NC_000023.10:g.76778826G>A , CM000685.1:g.76778826G>A	GRCh37
NC_000023.9:g.76665482G>A	NCBI36
NG_008838.2:g.267874C>T
NG_008838.3:g.267922C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6753C>T MANE Select	ENSP00000362441.4:p.Tyr2251=
ENST00000675732.1:c.1851C>T	ENSP00000502598.1:p.Tyr617=
ENST00000373344.9:c.6753C>T	ENSP00000362441.4:p.Tyr2251=
ENST00000395603.7:c.6639C>T	ENSP00000378967.3:p.Tyr2213=
ENST00000480283.5:c.*6381C>T	ENSP00000480196.1:n.*6381C>T
ENST00000623706.3:n.3823C>T
NM_000489.4:c.6753C>T	NP_000480.3:p.Tyr2251=
NM_138270.3:c.6639C>T	NP_612114.2:p.Tyr2213=
XM_005262153.3:c.6750C>T	XP_005262210.2:p.Tyr2250=
XM_005262154.3:c.6666C>T	XP_005262211.2:p.Tyr2222=
XM_005262155.3:c.6636C>T	XP_005262212.2:p.Tyr2212=
XM_005262156.3:c.6588C>T	XP_005262213.2:p.Tyr2196=
XM_005262157.3:c.6549C>T	XP_005262214.2:p.Tyr2183=
XM_006724666.2:c.6636C>T	XP_006724729.1:p.Tyr2212=
XM_006724667.2:c.6474C>T	XP_006724730.1:p.Tyr2158=
XR_938400.1:n.7095C>T
NM_000489.5:c.6753C>T	NP_000480.3:p.Tyr2251=
XM_005262153.5:c.6750C>T	XP_005262210.2:p.Tyr2250=
XM_005262154.5:c.6666C>T	XP_005262211.2:p.Tyr2222=
XM_005262155.4:c.6636C>T	XP_005262212.2:p.Tyr2212=
XM_005262156.4:c.6588C>T	XP_005262213.2:p.Tyr2196=
XM_005262157.5:c.6549C>T	XP_005262214.2:p.Tyr2183=
XM_006724666.4:c.6636C>T	XP_006724729.1:p.Tyr2212=
XM_006724667.3:c.6474C>T	XP_006724730.1:p.Tyr2158=
XM_017029601.2:c.6663C>T	XP_016885090.1:p.Tyr2221=
XM_017029602.1:c.6633C>T	XP_016885091.1:p.Tyr2211=
XM_017029603.1:c.6585C>T	XP_016885092.1:p.Tyr2195=
XM_017029604.2:c.6552C>T	XP_016885093.1:p.Tyr2184=
XM_017029605.1:c.6549C>T	XP_016885094.1:p.Tyr2183=
XM_017029606.2:c.6522C>T	XP_016885095.1:p.Tyr2174=
XM_017029607.2:c.6519C>T	XP_016885096.1:p.Tyr2173=
XM_017029608.2:c.6471C>T	XP_016885097.1:p.Tyr2157=
XM_017029609.1:c.6435C>T	XP_016885098.1:p.Tyr2145=
XM_017029610.1:c.6432C>T	XP_016885099.1:p.Tyr2144=
XM_017029611.1:c.6387C>T	XP_016885100.1:p.Tyr2129=
XR_001755700.2:n.7052C>T
NM_138270.4:c.6639C>T	NP_612114.2:p.Tyr2213=
NM_000489.6:c.6753C>T MANE Select	NP_000480.3:p.Tyr2251=
NM_138270.5:c.6639C>T	NP_612114.2:p.Tyr2213=