Canonical Allele Identifier: CA413701254

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76829808A>G (hg19) ; chrX:g.77574343A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574343A>G , CM000685.2:g.77574343A>G	GRCh38
NC_000023.10:g.76829808A>G , CM000685.1:g.76829808A>G	GRCh37
NC_000023.9:g.76716464A>G	NCBI36
NG_008838.2:g.216879T>C
NG_008838.3:g.216927T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6233T>C MANE Select	ENSP00000362441.4:p.Leu2078Pro
ENST00000636152.1:n.68T>C
ENST00000675732.1:c.1331T>C	ENSP00000502598.1:p.Leu444Pro
ENST00000373344.9:c.6233T>C	ENSP00000362441.4:p.Leu2078Pro
ENST00000395603.7:c.6119T>C	ENSP00000378967.3:p.Leu2040Pro
ENST00000480283.5:c.*5861T>C	ENSP00000480196.1:n.*5861T>C
ENST00000623316.1:c.717T>C
ENST00000623706.3:n.3303T>C
NM_000489.4:c.6233T>C	NP_000480.3:p.Leu2078Pro
NM_138270.3:c.6119T>C	NP_612114.2:p.Leu2040Pro
XM_005262153.3:c.6230T>C	XP_005262210.2:p.Leu2077Pro
XM_005262154.3:c.6146T>C	XP_005262211.2:p.Leu2049Pro
XM_005262155.3:c.6116T>C	XP_005262212.2:p.Leu2039Pro
XM_005262156.3:c.6068T>C	XP_005262213.2:p.Leu2023Pro
XM_005262157.3:c.6029T>C	XP_005262214.2:p.Leu2010Pro
XM_006724666.2:c.6116T>C	XP_006724729.1:p.Leu2039Pro
XM_006724667.2:c.5954T>C	XP_006724730.1:p.Leu1985Pro
XR_938400.1:n.6575T>C
NM_000489.5:c.6233T>C	NP_000480.3:p.Leu2078Pro
XM_005262153.5:c.6230T>C	XP_005262210.2:p.Leu2077Pro
XM_005262154.5:c.6146T>C	XP_005262211.2:p.Leu2049Pro
XM_005262155.4:c.6116T>C	XP_005262212.2:p.Leu2039Pro
XM_005262156.4:c.6068T>C	XP_005262213.2:p.Leu2023Pro
XM_005262157.5:c.6029T>C	XP_005262214.2:p.Leu2010Pro
XM_006724666.4:c.6116T>C	XP_006724729.1:p.Leu2039Pro
XM_006724667.3:c.5954T>C	XP_006724730.1:p.Leu1985Pro
XM_017029601.2:c.6143T>C	XP_016885090.1:p.Leu2048Pro
XM_017029602.1:c.6113T>C	XP_016885091.1:p.Leu2038Pro
XM_017029603.1:c.6065T>C	XP_016885092.1:p.Leu2022Pro
XM_017029604.2:c.6032T>C	XP_016885093.1:p.Leu2011Pro
XM_017029605.1:c.6029T>C	XP_016885094.1:p.Leu2010Pro
XM_017029606.2:c.6002T>C	XP_016885095.1:p.Leu2001Pro
XM_017029607.2:c.5999T>C	XP_016885096.1:p.Leu2000Pro
XM_017029608.2:c.5951T>C	XP_016885097.1:p.Leu1984Pro
XM_017029609.1:c.5915T>C	XP_016885098.1:p.Leu1972Pro
XM_017029610.1:c.5912T>C	XP_016885099.1:p.Leu1971Pro
XM_017029611.1:c.5867T>C	XP_016885100.1:p.Leu1956Pro
XR_001755700.2:n.6532T>C
NM_138270.4:c.6119T>C	NP_612114.2:p.Leu2040Pro
NM_000489.6:c.6233T>C MANE Select	NP_000480.3:p.Leu2078Pro
NM_138270.5:c.6119T>C	NP_612114.2:p.Leu2040Pro