Canonical Allele Identifier: CA517374832

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76829807A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574342A>G , CM000685.2:g.77574342A>G	GRCh38
NC_000023.10:g.76829807A>G , CM000685.1:g.76829807A>G	GRCh37
NC_000023.9:g.76716463A>G	NCBI36
NG_008838.2:g.216880T>C
NG_008838.3:g.216928T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6234T>C MANE Select	ENSP00000362441.4:p.Leu2078=
ENST00000636152.1:n.69T>C
ENST00000675732.1:c.1332T>C	ENSP00000502598.1:p.Leu444=
ENST00000373344.9:c.6234T>C	ENSP00000362441.4:p.Leu2078=
ENST00000395603.7:c.6120T>C	ENSP00000378967.3:p.Leu2040=
ENST00000480283.5:c.*5862T>C	ENSP00000480196.1:n.*5862T>C
ENST00000623316.1:c.718T>C
ENST00000623706.3:n.3304T>C
NM_000489.4:c.6234T>C	NP_000480.3:p.Leu2078=
NM_138270.3:c.6120T>C	NP_612114.2:p.Leu2040=
XM_005262153.3:c.6231T>C	XP_005262210.2:p.Leu2077=
XM_005262154.3:c.6147T>C	XP_005262211.2:p.Leu2049=
XM_005262155.3:c.6117T>C	XP_005262212.2:p.Leu2039=
XM_005262156.3:c.6069T>C	XP_005262213.2:p.Leu2023=
XM_005262157.3:c.6030T>C	XP_005262214.2:p.Leu2010=
XM_006724666.2:c.6117T>C	XP_006724729.1:p.Leu2039=
XM_006724667.2:c.5955T>C	XP_006724730.1:p.Leu1985=
XR_938400.1:n.6576T>C
NM_000489.5:c.6234T>C	NP_000480.3:p.Leu2078=
XM_005262153.5:c.6231T>C	XP_005262210.2:p.Leu2077=
XM_005262154.5:c.6147T>C	XP_005262211.2:p.Leu2049=
XM_005262155.4:c.6117T>C	XP_005262212.2:p.Leu2039=
XM_005262156.4:c.6069T>C	XP_005262213.2:p.Leu2023=
XM_005262157.5:c.6030T>C	XP_005262214.2:p.Leu2010=
XM_006724666.4:c.6117T>C	XP_006724729.1:p.Leu2039=
XM_006724667.3:c.5955T>C	XP_006724730.1:p.Leu1985=
XM_017029601.2:c.6144T>C	XP_016885090.1:p.Leu2048=
XM_017029602.1:c.6114T>C	XP_016885091.1:p.Leu2038=
XM_017029603.1:c.6066T>C	XP_016885092.1:p.Leu2022=
XM_017029604.2:c.6033T>C	XP_016885093.1:p.Leu2011=
XM_017029605.1:c.6030T>C	XP_016885094.1:p.Leu2010=
XM_017029606.2:c.6003T>C	XP_016885095.1:p.Leu2001=
XM_017029607.2:c.6000T>C	XP_016885096.1:p.Leu2000=
XM_017029608.2:c.5952T>C	XP_016885097.1:p.Leu1984=
XM_017029609.1:c.5916T>C	XP_016885098.1:p.Leu1972=
XM_017029610.1:c.5913T>C	XP_016885099.1:p.Leu1971=
XM_017029611.1:c.5868T>C	XP_016885100.1:p.Leu1956=
XR_001755700.2:n.6533T>C
NM_138270.4:c.6120T>C	NP_612114.2:p.Leu2040=
NM_000489.6:c.6234T>C MANE Select	NP_000480.3:p.Leu2078=
NM_138270.5:c.6120T>C	NP_612114.2:p.Leu2040=