Canonical Allele Identifier: CA413707122

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76776312T>A (hg19) ; chrX:g.77520834T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77520834T>A , CM000685.2:g.77520834T>A	GRCh38
NC_000023.10:g.76776312T>A , CM000685.1:g.76776312T>A	GRCh37
NC_000023.9:g.76662968T>A	NCBI36
NG_008838.2:g.270388A>T
NG_008838.3:g.270436A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000373344.11:c.7154A>T MANE Select	ENSP00000362441.4:p.Lys2385Ile
ENST00000675732.1:c.2252A>T	ENSP00000502598.1:p.Lys751Ile
ENST00000373344.9:c.7154A>T	ENSP00000362441.4:p.Lys2385Ile
ENST00000395603.7:c.7040A>T	ENSP00000378967.3:p.Lys2347Ile
ENST00000480283.5:c.*6782A>T	ENSP00000480196.1:n.*6782A>T
ENST00000623706.3:n.5474A>T
ENST00000624766.1:n.385A>T
NM_000489.4:c.7154A>T	NP_000480.3:p.Lys2385Ile
NM_138270.3:c.7040A>T	NP_612114.2:p.Lys2347Ile
XM_005262153.3:c.7151A>T	XP_005262210.2:p.Lys2384Ile
XM_005262154.3:c.7067A>T	XP_005262211.2:p.Lys2356Ile
XM_005262155.3:c.7037A>T	XP_005262212.2:p.Lys2346Ile
XM_005262156.3:c.6989A>T	XP_005262213.2:p.Lys2330Ile
XM_005262157.3:c.6950A>T	XP_005262214.2:p.Lys2317Ile
XM_006724666.2:c.7037A>T	XP_006724729.1:p.Lys2346Ile
XM_006724667.2:c.6875A>T	XP_006724730.1:p.Lys2292Ile
XR_938400.1:n.8746A>T
NM_000489.5:c.7154A>T	NP_000480.3:p.Lys2385Ile
XM_005262153.5:c.7151A>T	XP_005262210.2:p.Lys2384Ile
XM_005262154.5:c.7067A>T	XP_005262211.2:p.Lys2356Ile
XM_005262155.4:c.7037A>T	XP_005262212.2:p.Lys2346Ile
XM_005262156.4:c.6989A>T	XP_005262213.2:p.Lys2330Ile
XM_005262157.5:c.6950A>T	XP_005262214.2:p.Lys2317Ile
XM_006724666.4:c.7037A>T	XP_006724729.1:p.Lys2346Ile
XM_006724667.3:c.6875A>T	XP_006724730.1:p.Lys2292Ile
XM_017029601.2:c.7064A>T	XP_016885090.1:p.Lys2355Ile
XM_017029602.1:c.7034A>T	XP_016885091.1:p.Lys2345Ile
XM_017029603.1:c.6986A>T	XP_016885092.1:p.Lys2329Ile
XM_017029604.2:c.6953A>T	XP_016885093.1:p.Lys2318Ile
XM_017029605.1:c.6950A>T	XP_016885094.1:p.Lys2317Ile
XM_017029606.2:c.6923A>T	XP_016885095.1:p.Lys2308Ile
XM_017029607.2:c.6920A>T	XP_016885096.1:p.Lys2307Ile
XM_017029608.2:c.6872A>T	XP_016885097.1:p.Lys2291Ile
XM_017029609.1:c.6836A>T	XP_016885098.1:p.Lys2279Ile
XM_017029610.1:c.6833A>T	XP_016885099.1:p.Lys2278Ile
XM_017029611.1:c.6788A>T	XP_016885100.1:p.Lys2263Ile
XR_001755700.2:n.7453A>T
NM_138270.4:c.7040A>T	NP_612114.2:p.Lys2347Ile
NM_000489.6:c.7154A>T MANE Select	NP_000480.3:p.Lys2385Ile
NM_138270.5:c.7040A>T	NP_612114.2:p.Lys2347Ile