Canonical Allele Identifier: CA517374149

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76764009C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508531C>A , CM000685.2:g.77508531C>A	GRCh38
NC_000023.10:g.76764009C>A , CM000685.1:g.76764009C>A	GRCh37
NC_000023.9:g.76650665C>A	NCBI36
NG_008838.2:g.282691G>T
NG_008838.3:g.282739G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7299G>T MANE Select	ENSP00000362441.4:p.Leu2433=
ENST00000675732.1:c.2397G>T	ENSP00000502598.1:p.Leu799=
ENST00000373344.9:c.7299G>T	ENSP00000362441.4:p.Leu2433=
ENST00000395603.7:c.7185G>T	ENSP00000378967.3:p.Leu2395=
ENST00000480283.5:c.*6927G>T	ENSP00000480196.1:n.*6927G>T
ENST00000623706.3:n.5619G>T
ENST00000624766.1:n.530G>T
NM_000489.4:c.7299G>T	NP_000480.3:p.Leu2433=
NM_138270.3:c.7185G>T	NP_612114.2:p.Leu2395=
XM_005262153.3:c.7296G>T	XP_005262210.2:p.Leu2432=
XM_005262154.3:c.7212G>T	XP_005262211.2:p.Leu2404=
XM_005262155.3:c.7182G>T	XP_005262212.2:p.Leu2394=
XM_005262156.3:c.7134G>T	XP_005262213.2:p.Leu2378=
XM_005262157.3:c.7095G>T	XP_005262214.2:p.Leu2365=
XM_006724666.2:c.7182G>T	XP_006724729.1:p.Leu2394=
XM_006724667.2:c.7020G>T	XP_006724730.1:p.Leu2340=
XR_938400.1:n.8891G>T
NM_000489.5:c.7299G>T	NP_000480.3:p.Leu2433=
XM_005262153.5:c.7296G>T	XP_005262210.2:p.Leu2432=
XM_005262154.5:c.7212G>T	XP_005262211.2:p.Leu2404=
XM_005262155.4:c.7182G>T	XP_005262212.2:p.Leu2394=
XM_005262156.4:c.7134G>T	XP_005262213.2:p.Leu2378=
XM_005262157.5:c.7095G>T	XP_005262214.2:p.Leu2365=
XM_006724666.4:c.7182G>T	XP_006724729.1:p.Leu2394=
XM_006724667.3:c.7020G>T	XP_006724730.1:p.Leu2340=
XM_017029601.2:c.7209G>T	XP_016885090.1:p.Leu2403=
XM_017029602.1:c.7179G>T	XP_016885091.1:p.Leu2393=
XM_017029603.1:c.7131G>T	XP_016885092.1:p.Leu2377=
XM_017029604.2:c.7098G>T	XP_016885093.1:p.Leu2366=
XM_017029605.1:c.7095G>T	XP_016885094.1:p.Leu2365=
XM_017029606.2:c.7068G>T	XP_016885095.1:p.Leu2356=
XM_017029607.2:c.7065G>T	XP_016885096.1:p.Leu2355=
XM_017029608.2:c.7017G>T	XP_016885097.1:p.Leu2339=
XM_017029609.1:c.6981G>T	XP_016885098.1:p.Leu2327=
XM_017029610.1:c.6978G>T	XP_016885099.1:p.Leu2326=
XM_017029611.1:c.6933G>T	XP_016885100.1:p.Leu2311=
XR_001755700.2:n.7598G>T
NM_138270.4:c.7185G>T	NP_612114.2:p.Leu2395=
NM_000489.6:c.7299G>T MANE Select	NP_000480.3:p.Leu2433=
NM_138270.5:c.7185G>T	NP_612114.2:p.Leu2395=