Canonical Allele Identifier: CA517374143

Gene: ATRX

Linked Data

• dbSNP Id: rs1170674622
• MyVariant Identifiers: chrX:g.76764003G>A (hg19) ; chrX:g.77508525G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508525G>A , CM000685.2:g.77508525G>A	GRCh38
NC_000023.10:g.76764003G>A , CM000685.1:g.76764003G>A	GRCh37
NC_000023.9:g.76650659G>A	NCBI36
NG_008838.2:g.282697C>T
NG_008838.3:g.282745C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7305C>T MANE Select	ENSP00000362441.4:p.His2435=
ENST00000675732.1:c.2403C>T	ENSP00000502598.1:p.His801=
ENST00000373344.9:c.7305C>T	ENSP00000362441.4:p.His2435=
ENST00000395603.7:c.7191C>T	ENSP00000378967.3:p.His2397=
ENST00000480283.5:c.*6933C>T	ENSP00000480196.1:n.*6933C>T
ENST00000623706.3:n.5625C>T
ENST00000624766.1:n.536C>T
NM_000489.4:c.7305C>T	NP_000480.3:p.His2435=
NM_138270.3:c.7191C>T	NP_612114.2:p.His2397=
XM_005262153.3:c.7302C>T	XP_005262210.2:p.His2434=
XM_005262154.3:c.7218C>T	XP_005262211.2:p.His2406=
XM_005262155.3:c.7188C>T	XP_005262212.2:p.His2396=
XM_005262156.3:c.7140C>T	XP_005262213.2:p.His2380=
XM_005262157.3:c.7101C>T	XP_005262214.2:p.His2367=
XM_006724666.2:c.7188C>T	XP_006724729.1:p.His2396=
XM_006724667.2:c.7026C>T	XP_006724730.1:p.His2342=
XR_938400.1:n.8897C>T
NM_000489.5:c.7305C>T	NP_000480.3:p.His2435=
XM_005262153.5:c.7302C>T	XP_005262210.2:p.His2434=
XM_005262154.5:c.7218C>T	XP_005262211.2:p.His2406=
XM_005262155.4:c.7188C>T	XP_005262212.2:p.His2396=
XM_005262156.4:c.7140C>T	XP_005262213.2:p.His2380=
XM_005262157.5:c.7101C>T	XP_005262214.2:p.His2367=
XM_006724666.4:c.7188C>T	XP_006724729.1:p.His2396=
XM_006724667.3:c.7026C>T	XP_006724730.1:p.His2342=
XM_017029601.2:c.7215C>T	XP_016885090.1:p.His2405=
XM_017029602.1:c.7185C>T	XP_016885091.1:p.His2395=
XM_017029603.1:c.7137C>T	XP_016885092.1:p.His2379=
XM_017029604.2:c.7104C>T	XP_016885093.1:p.His2368=
XM_017029605.1:c.7101C>T	XP_016885094.1:p.His2367=
XM_017029606.2:c.7074C>T	XP_016885095.1:p.His2358=
XM_017029607.2:c.7071C>T	XP_016885096.1:p.His2357=
XM_017029608.2:c.7023C>T	XP_016885097.1:p.His2341=
XM_017029609.1:c.6987C>T	XP_016885098.1:p.His2329=
XM_017029610.1:c.6984C>T	XP_016885099.1:p.His2328=
XM_017029611.1:c.6939C>T	XP_016885100.1:p.His2313=
XR_001755700.2:n.7604C>T
NM_138270.4:c.7191C>T	NP_612114.2:p.His2397=
NM_000489.6:c.7305C>T MANE Select	NP_000480.3:p.His2435=
NM_138270.5:c.7191C>T	NP_612114.2:p.His2397=