Canonical Allele Identifier: CA413702287

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76845316G>A (hg19) ; chrX:g.77589846G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77589846G>A , CM000685.2:g.77589846G>A	GRCh38
NC_000023.10:g.76845316G>A , CM000685.1:g.76845316G>A	GRCh37
NC_000023.9:g.76731972G>A	NCBI36
NG_008838.2:g.201376C>T
NG_008838.3:g.201424C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6205C>T MANE Select	ENSP00000362441.4:p.Leu2069Phe
ENST00000636868.1:n.27C>T
ENST00000675732.1:c.1303C>T	ENSP00000502598.1:p.Leu435Phe
ENST00000373344.9:c.6205C>T	ENSP00000362441.4:p.Leu2069Phe
ENST00000395603.7:c.6091C>T	ENSP00000378967.3:p.Leu2031Phe
ENST00000480283.5:c.*5833C>T	ENSP00000480196.1:n.*5833C>T
ENST00000623316.1:c.689C>T
ENST00000623706.3:n.3275C>T
NM_000489.4:c.6205C>T	NP_000480.3:p.Leu2069Phe
NM_138270.3:c.6091C>T	NP_612114.2:p.Leu2031Phe
XM_005262153.3:c.6202C>T	XP_005262210.2:p.Leu2068Phe
XM_005262154.3:c.6118C>T	XP_005262211.2:p.Leu2040Phe
XM_005262155.3:c.6088C>T	XP_005262212.2:p.Leu2030Phe
XM_005262156.3:c.6040C>T	XP_005262213.2:p.Leu2014Phe
XM_005262157.3:c.6001C>T	XP_005262214.2:p.Leu2001Phe
XM_006724666.2:c.6088C>T	XP_006724729.1:p.Leu2030Phe
XM_006724667.2:c.5926C>T	XP_006724730.1:p.Leu1976Phe
XR_938400.1:n.6547C>T
NM_000489.5:c.6205C>T	NP_000480.3:p.Leu2069Phe
XM_005262153.5:c.6202C>T	XP_005262210.2:p.Leu2068Phe
XM_005262154.5:c.6118C>T	XP_005262211.2:p.Leu2040Phe
XM_005262155.4:c.6088C>T	XP_005262212.2:p.Leu2030Phe
XM_005262156.4:c.6040C>T	XP_005262213.2:p.Leu2014Phe
XM_005262157.5:c.6001C>T	XP_005262214.2:p.Leu2001Phe
XM_006724666.4:c.6088C>T	XP_006724729.1:p.Leu2030Phe
XM_006724667.3:c.5926C>T	XP_006724730.1:p.Leu1976Phe
XM_017029601.2:c.6115C>T	XP_016885090.1:p.Leu2039Phe
XM_017029602.1:c.6085C>T	XP_016885091.1:p.Leu2029Phe
XM_017029603.1:c.6037C>T	XP_016885092.1:p.Leu2013Phe
XM_017029604.2:c.6004C>T	XP_016885093.1:p.Leu2002Phe
XM_017029605.1:c.6001C>T	XP_016885094.1:p.Leu2001Phe
XM_017029606.2:c.5974C>T	XP_016885095.1:p.Leu1992Phe
XM_017029607.2:c.5971C>T	XP_016885096.1:p.Leu1991Phe
XM_017029608.2:c.5923C>T	XP_016885097.1:p.Leu1975Phe
XM_017029609.1:c.5887C>T	XP_016885098.1:p.Leu1963Phe
XM_017029610.1:c.5884C>T	XP_016885099.1:p.Leu1962Phe
XM_017029611.1:c.5839C>T	XP_016885100.1:p.Leu1947Phe
XR_001755700.2:n.6504C>T
NM_138270.4:c.6091C>T	NP_612114.2:p.Leu2031Phe
NM_000489.6:c.6205C>T MANE Select	NP_000480.3:p.Leu2069Phe
NM_138270.5:c.6091C>T	NP_612114.2:p.Leu2031Phe