Canonical Allele Identifier: CA413700845

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76829720A>T (hg19) ; chrX:g.77574255A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574255A>T , CM000685.2:g.77574255A>T	GRCh38
NC_000023.10:g.76829720A>T , CM000685.1:g.76829720A>T	GRCh37
NC_000023.9:g.76716376A>T	NCBI36
NG_008838.2:g.216967T>A
NG_008838.3:g.217015T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6321T>A MANE Select	ENSP00000362441.4:p.Asn2107Lys
ENST00000675732.1:c.1419T>A	ENSP00000502598.1:p.Asn473Lys
ENST00000373344.9:c.6321T>A	ENSP00000362441.4:p.Asn2107Lys
ENST00000395603.7:c.6207T>A	ENSP00000378967.3:p.Asn2069Lys
ENST00000480283.5:c.*5949T>A	ENSP00000480196.1:n.*5949T>A
ENST00000623706.3:n.3391T>A
NM_000489.4:c.6321T>A	NP_000480.3:p.Asn2107Lys
NM_138270.3:c.6207T>A	NP_612114.2:p.Asn2069Lys
XM_005262153.3:c.6318T>A	XP_005262210.2:p.Asn2106Lys
XM_005262154.3:c.6234T>A	XP_005262211.2:p.Asn2078Lys
XM_005262155.3:c.6204T>A	XP_005262212.2:p.Asn2068Lys
XM_005262156.3:c.6156T>A	XP_005262213.2:p.Asn2052Lys
XM_005262157.3:c.6117T>A	XP_005262214.2:p.Asn2039Lys
XM_006724666.2:c.6204T>A	XP_006724729.1:p.Asn2068Lys
XM_006724667.2:c.6042T>A	XP_006724730.1:p.Asn2014Lys
XR_938400.1:n.6663T>A
NM_000489.5:c.6321T>A	NP_000480.3:p.Asn2107Lys
XM_005262153.5:c.6318T>A	XP_005262210.2:p.Asn2106Lys
XM_005262154.5:c.6234T>A	XP_005262211.2:p.Asn2078Lys
XM_005262155.4:c.6204T>A	XP_005262212.2:p.Asn2068Lys
XM_005262156.4:c.6156T>A	XP_005262213.2:p.Asn2052Lys
XM_005262157.5:c.6117T>A	XP_005262214.2:p.Asn2039Lys
XM_006724666.4:c.6204T>A	XP_006724729.1:p.Asn2068Lys
XM_006724667.3:c.6042T>A	XP_006724730.1:p.Asn2014Lys
XM_017029601.2:c.6231T>A	XP_016885090.1:p.Asn2077Lys
XM_017029602.1:c.6201T>A	XP_016885091.1:p.Asn2067Lys
XM_017029603.1:c.6153T>A	XP_016885092.1:p.Asn2051Lys
XM_017029604.2:c.6120T>A	XP_016885093.1:p.Asn2040Lys
XM_017029605.1:c.6117T>A	XP_016885094.1:p.Asn2039Lys
XM_017029606.2:c.6090T>A	XP_016885095.1:p.Asn2030Lys
XM_017029607.2:c.6087T>A	XP_016885096.1:p.Asn2029Lys
XM_017029608.2:c.6039T>A	XP_016885097.1:p.Asn2013Lys
XM_017029609.1:c.6003T>A	XP_016885098.1:p.Asn2001Lys
XM_017029610.1:c.6000T>A	XP_016885099.1:p.Asn2000Lys
XM_017029611.1:c.5955T>A	XP_016885100.1:p.Asn1985Lys
XR_001755700.2:n.6620T>A
NM_138270.4:c.6207T>A	NP_612114.2:p.Asn2069Lys
NM_000489.6:c.6321T>A MANE Select	NP_000480.3:p.Asn2107Lys
NM_138270.5:c.6207T>A	NP_612114.2:p.Asn2069Lys