Canonical Allele Identifier: CA413700902

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76829733T>A (hg19) ; chrX:g.77574268T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574268T>A , CM000685.2:g.77574268T>A	GRCh38
NC_000023.10:g.76829733T>A , CM000685.1:g.76829733T>A	GRCh37
NC_000023.9:g.76716389T>A	NCBI36
NG_008838.2:g.216954A>T
NG_008838.3:g.217002A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6308A>T MANE Select	ENSP00000362441.4:p.Asn2103Ile
ENST00000675732.1:c.1406A>T	ENSP00000502598.1:p.Asn469Ile
ENST00000373344.9:c.6308A>T	ENSP00000362441.4:p.Asn2103Ile
ENST00000395603.7:c.6194A>T	ENSP00000378967.3:p.Asn2065Ile
ENST00000480283.5:c.*5936A>T	ENSP00000480196.1:n.*5936A>T
ENST00000623316.1:c.792A>T
ENST00000623706.3:n.3378A>T
NM_000489.4:c.6308A>T	NP_000480.3:p.Asn2103Ile
NM_138270.3:c.6194A>T	NP_612114.2:p.Asn2065Ile
XM_005262153.3:c.6305A>T	XP_005262210.2:p.Asn2102Ile
XM_005262154.3:c.6221A>T	XP_005262211.2:p.Asn2074Ile
XM_005262155.3:c.6191A>T	XP_005262212.2:p.Asn2064Ile
XM_005262156.3:c.6143A>T	XP_005262213.2:p.Asn2048Ile
XM_005262157.3:c.6104A>T	XP_005262214.2:p.Asn2035Ile
XM_006724666.2:c.6191A>T	XP_006724729.1:p.Asn2064Ile
XM_006724667.2:c.6029A>T	XP_006724730.1:p.Asn2010Ile
XR_938400.1:n.6650A>T
NM_000489.5:c.6308A>T	NP_000480.3:p.Asn2103Ile
XM_005262153.5:c.6305A>T	XP_005262210.2:p.Asn2102Ile
XM_005262154.5:c.6221A>T	XP_005262211.2:p.Asn2074Ile
XM_005262155.4:c.6191A>T	XP_005262212.2:p.Asn2064Ile
XM_005262156.4:c.6143A>T	XP_005262213.2:p.Asn2048Ile
XM_005262157.5:c.6104A>T	XP_005262214.2:p.Asn2035Ile
XM_006724666.4:c.6191A>T	XP_006724729.1:p.Asn2064Ile
XM_006724667.3:c.6029A>T	XP_006724730.1:p.Asn2010Ile
XM_017029601.2:c.6218A>T	XP_016885090.1:p.Asn2073Ile
XM_017029602.1:c.6188A>T	XP_016885091.1:p.Asn2063Ile
XM_017029603.1:c.6140A>T	XP_016885092.1:p.Asn2047Ile
XM_017029604.2:c.6107A>T	XP_016885093.1:p.Asn2036Ile
XM_017029605.1:c.6104A>T	XP_016885094.1:p.Asn2035Ile
XM_017029606.2:c.6077A>T	XP_016885095.1:p.Asn2026Ile
XM_017029607.2:c.6074A>T	XP_016885096.1:p.Asn2025Ile
XM_017029608.2:c.6026A>T	XP_016885097.1:p.Asn2009Ile
XM_017029609.1:c.5990A>T	XP_016885098.1:p.Asn1997Ile
XM_017029610.1:c.5987A>T	XP_016885099.1:p.Asn1996Ile
XM_017029611.1:c.5942A>T	XP_016885100.1:p.Asn1981Ile
XR_001755700.2:n.6607A>T
NM_138270.4:c.6194A>T	NP_612114.2:p.Asn2065Ile
NM_000489.6:c.6308A>T MANE Select	NP_000480.3:p.Asn2103Ile
NM_138270.5:c.6194A>T	NP_612114.2:p.Asn2065Ile