Canonical Allele Identifier: CA517375057

Gene: ATRX

Linked Data

• COSMIC: COSM6119793 ; COSM6119794
• MyVariant Identifiers: chrX:g.76845335T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77589865T>A , CM000685.2:g.77589865T>A	GRCh38
NC_000023.10:g.76845335T>A , CM000685.1:g.76845335T>A	GRCh37
NC_000023.9:g.76731991T>A	NCBI36
NG_008838.2:g.201357A>T
NG_008838.3:g.201405A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6186A>T MANE Select	ENSP00000362441.4:p.Thr2062=
ENST00000636868.1:n.8A>T
ENST00000675732.1:c.1284A>T	ENSP00000502598.1:p.Thr428=
ENST00000373344.9:c.6186A>T	ENSP00000362441.4:p.Thr2062=
ENST00000395603.7:c.6072A>T	ENSP00000378967.3:p.Thr2024=
ENST00000480283.5:c.*5814A>T	ENSP00000480196.1:n.*5814A>T
ENST00000623316.1:c.670A>T
ENST00000623706.3:n.3256A>T
NM_000489.4:c.6186A>T	NP_000480.3:p.Thr2062=
NM_138270.3:c.6072A>T	NP_612114.2:p.Thr2024=
XM_005262153.3:c.6183A>T	XP_005262210.2:p.Thr2061=
XM_005262154.3:c.6099A>T	XP_005262211.2:p.Thr2033=
XM_005262155.3:c.6069A>T	XP_005262212.2:p.Thr2023=
XM_005262156.3:c.6021A>T	XP_005262213.2:p.Thr2007=
XM_005262157.3:c.5982A>T	XP_005262214.2:p.Thr1994=
XM_006724666.2:c.6069A>T	XP_006724729.1:p.Thr2023=
XM_006724667.2:c.5907A>T	XP_006724730.1:p.Thr1969=
XR_938400.1:n.6528A>T
NM_000489.5:c.6186A>T	NP_000480.3:p.Thr2062=
XM_005262153.5:c.6183A>T	XP_005262210.2:p.Thr2061=
XM_005262154.5:c.6099A>T	XP_005262211.2:p.Thr2033=
XM_005262155.4:c.6069A>T	XP_005262212.2:p.Thr2023=
XM_005262156.4:c.6021A>T	XP_005262213.2:p.Thr2007=
XM_005262157.5:c.5982A>T	XP_005262214.2:p.Thr1994=
XM_006724666.4:c.6069A>T	XP_006724729.1:p.Thr2023=
XM_006724667.3:c.5907A>T	XP_006724730.1:p.Thr1969=
XM_017029601.2:c.6096A>T	XP_016885090.1:p.Thr2032=
XM_017029602.1:c.6066A>T	XP_016885091.1:p.Thr2022=
XM_017029603.1:c.6018A>T	XP_016885092.1:p.Thr2006=
XM_017029604.2:c.5985A>T	XP_016885093.1:p.Thr1995=
XM_017029605.1:c.5982A>T	XP_016885094.1:p.Thr1994=
XM_017029606.2:c.5955A>T	XP_016885095.1:p.Thr1985=
XM_017029607.2:c.5952A>T	XP_016885096.1:p.Thr1984=
XM_017029608.2:c.5904A>T	XP_016885097.1:p.Thr1968=
XM_017029609.1:c.5868A>T	XP_016885098.1:p.Thr1956=
XM_017029610.1:c.5865A>T	XP_016885099.1:p.Thr1955=
XM_017029611.1:c.5820A>T	XP_016885100.1:p.Thr1940=
XR_001755700.2:n.6485A>T
NM_138270.4:c.6072A>T	NP_612114.2:p.Thr2024=
NM_000489.6:c.6186A>T MANE Select	NP_000480.3:p.Thr2062=
NM_138270.5:c.6072A>T	NP_612114.2:p.Thr2024=