Canonical Allele Identifier: CA517374139

Gene: ATRX

Linked Data

• dbSNP Id: rs2147650283
• MyVariant Identifiers: chrX:g.76764000G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508522G>T , CM000685.2:g.77508522G>T	GRCh38
NC_000023.10:g.76764000G>T , CM000685.1:g.76764000G>T	GRCh37
NC_000023.9:g.76650656G>T	NCBI36
NG_008838.2:g.282700C>A
NG_008838.3:g.282748C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7308C>A MANE Select	ENSP00000362441.4:p.Leu2436=
ENST00000675732.1:c.2406C>A	ENSP00000502598.1:p.Leu802=
ENST00000373344.9:c.7308C>A	ENSP00000362441.4:p.Leu2436=
ENST00000395603.7:c.7194C>A	ENSP00000378967.3:p.Leu2398=
ENST00000480283.5:c.*6936C>A	ENSP00000480196.1:n.*6936C>A
ENST00000623706.3:n.5628C>A
ENST00000624766.1:n.539C>A
NM_000489.4:c.7308C>A	NP_000480.3:p.Leu2436=
NM_138270.3:c.7194C>A	NP_612114.2:p.Leu2398=
XM_005262153.3:c.7305C>A	XP_005262210.2:p.Leu2435=
XM_005262154.3:c.7221C>A	XP_005262211.2:p.Leu2407=
XM_005262155.3:c.7191C>A	XP_005262212.2:p.Leu2397=
XM_005262156.3:c.7143C>A	XP_005262213.2:p.Leu2381=
XM_005262157.3:c.7104C>A	XP_005262214.2:p.Leu2368=
XM_006724666.2:c.7191C>A	XP_006724729.1:p.Leu2397=
XM_006724667.2:c.7029C>A	XP_006724730.1:p.Leu2343=
XR_938400.1:n.8900C>A
NM_000489.5:c.7308C>A	NP_000480.3:p.Leu2436=
XM_005262153.5:c.7305C>A	XP_005262210.2:p.Leu2435=
XM_005262154.5:c.7221C>A	XP_005262211.2:p.Leu2407=
XM_005262155.4:c.7191C>A	XP_005262212.2:p.Leu2397=
XM_005262156.4:c.7143C>A	XP_005262213.2:p.Leu2381=
XM_005262157.5:c.7104C>A	XP_005262214.2:p.Leu2368=
XM_006724666.4:c.7191C>A	XP_006724729.1:p.Leu2397=
XM_006724667.3:c.7029C>A	XP_006724730.1:p.Leu2343=
XM_017029601.2:c.7218C>A	XP_016885090.1:p.Leu2406=
XM_017029602.1:c.7188C>A	XP_016885091.1:p.Leu2396=
XM_017029603.1:c.7140C>A	XP_016885092.1:p.Leu2380=
XM_017029604.2:c.7107C>A	XP_016885093.1:p.Leu2369=
XM_017029605.1:c.7104C>A	XP_016885094.1:p.Leu2368=
XM_017029606.2:c.7077C>A	XP_016885095.1:p.Leu2359=
XM_017029607.2:c.7074C>A	XP_016885096.1:p.Leu2358=
XM_017029608.2:c.7026C>A	XP_016885097.1:p.Leu2342=
XM_017029609.1:c.6990C>A	XP_016885098.1:p.Leu2330=
XM_017029610.1:c.6987C>A	XP_016885099.1:p.Leu2329=
XM_017029611.1:c.6942C>A	XP_016885100.1:p.Leu2314=
XR_001755700.2:n.7607C>A
NM_138270.4:c.7194C>A	NP_612114.2:p.Leu2398=
NM_000489.6:c.7308C>A MANE Select	NP_000480.3:p.Leu2436=
NM_138270.5:c.7194C>A	NP_612114.2:p.Leu2398=