Canonical Allele Identifier: CA413701099

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76829772G>T (hg19) ; chrX:g.77574307G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574307G>T , CM000685.2:g.77574307G>T	GRCh38
NC_000023.10:g.76829772G>T , CM000685.1:g.76829772G>T	GRCh37
NC_000023.9:g.76716428G>T	NCBI36
NG_008838.2:g.216915C>A
NG_008838.3:g.216963C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6269C>A MANE Select	ENSP00000362441.4:p.Thr2090Asn
ENST00000675732.1:c.1367C>A	ENSP00000502598.1:p.Thr456Asn
ENST00000373344.9:c.6269C>A	ENSP00000362441.4:p.Thr2090Asn
ENST00000395603.7:c.6155C>A	ENSP00000378967.3:p.Thr2052Asn
ENST00000480283.5:c.*5897C>A	ENSP00000480196.1:n.*5897C>A
ENST00000623316.1:c.753C>A
ENST00000623706.3:n.3339C>A
NM_000489.4:c.6269C>A	NP_000480.3:p.Thr2090Asn
NM_138270.3:c.6155C>A	NP_612114.2:p.Thr2052Asn
XM_005262153.3:c.6266C>A	XP_005262210.2:p.Thr2089Asn
XM_005262154.3:c.6182C>A	XP_005262211.2:p.Thr2061Asn
XM_005262155.3:c.6152C>A	XP_005262212.2:p.Thr2051Asn
XM_005262156.3:c.6104C>A	XP_005262213.2:p.Thr2035Asn
XM_005262157.3:c.6065C>A	XP_005262214.2:p.Thr2022Asn
XM_006724666.2:c.6152C>A	XP_006724729.1:p.Thr2051Asn
XM_006724667.2:c.5990C>A	XP_006724730.1:p.Thr1997Asn
XR_938400.1:n.6611C>A
NM_000489.5:c.6269C>A	NP_000480.3:p.Thr2090Asn
XM_005262153.5:c.6266C>A	XP_005262210.2:p.Thr2089Asn
XM_005262154.5:c.6182C>A	XP_005262211.2:p.Thr2061Asn
XM_005262155.4:c.6152C>A	XP_005262212.2:p.Thr2051Asn
XM_005262156.4:c.6104C>A	XP_005262213.2:p.Thr2035Asn
XM_005262157.5:c.6065C>A	XP_005262214.2:p.Thr2022Asn
XM_006724666.4:c.6152C>A	XP_006724729.1:p.Thr2051Asn
XM_006724667.3:c.5990C>A	XP_006724730.1:p.Thr1997Asn
XM_017029601.2:c.6179C>A	XP_016885090.1:p.Thr2060Asn
XM_017029602.1:c.6149C>A	XP_016885091.1:p.Thr2050Asn
XM_017029603.1:c.6101C>A	XP_016885092.1:p.Thr2034Asn
XM_017029604.2:c.6068C>A	XP_016885093.1:p.Thr2023Asn
XM_017029605.1:c.6065C>A	XP_016885094.1:p.Thr2022Asn
XM_017029606.2:c.6038C>A	XP_016885095.1:p.Thr2013Asn
XM_017029607.2:c.6035C>A	XP_016885096.1:p.Thr2012Asn
XM_017029608.2:c.5987C>A	XP_016885097.1:p.Thr1996Asn
XM_017029609.1:c.5951C>A	XP_016885098.1:p.Thr1984Asn
XM_017029610.1:c.5948C>A	XP_016885099.1:p.Thr1983Asn
XM_017029611.1:c.5903C>A	XP_016885100.1:p.Thr1968Asn
XR_001755700.2:n.6568C>A
NM_138270.4:c.6155C>A	NP_612114.2:p.Thr2052Asn
NM_000489.6:c.6269C>A MANE Select	NP_000480.3:p.Thr2090Asn
NM_138270.5:c.6155C>A	NP_612114.2:p.Thr2052Asn