Canonical Allele Identifier: CA413708092

Gene: ATRX

Linked Data

• dbSNP Id: rs2148437001
• MyVariant Identifiers: chrX:g.76907683G>A (hg19) ; chrX:g.77652193G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652193G>A , CM000685.2:g.77652193G>A	GRCh38
NC_000023.10:g.76907683G>A , CM000685.1:g.76907683G>A	GRCh37
NC_000023.9:g.76794339G>A	NCBI36
NG_008838.2:g.139029C>T
NG_008838.3:g.139077C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4478C>T MANE Select	ENSP00000362441.4:p.Thr1493Ile
ENST00000373344.9:c.4478C>T	ENSP00000362441.4:p.Thr1493Ile
ENST00000395603.7:c.4364C>T	ENSP00000378967.3:p.Thr1455Ile
ENST00000480283.5:c.*4106C>T	ENSP00000480196.1:n.*4106C>T
ENST00000623242.3:c.84C>T
NM_000489.4:c.4478C>T	NP_000480.3:p.Thr1493Ile
NM_138270.3:c.4364C>T	NP_612114.2:p.Thr1455Ile
XM_005262153.3:c.4475C>T	XP_005262210.2:p.Thr1492Ile
XM_005262154.3:c.4391C>T	XP_005262211.2:p.Thr1464Ile
XM_005262155.3:c.4361C>T	XP_005262212.2:p.Thr1454Ile
XM_005262156.3:c.4313C>T	XP_005262213.2:p.Thr1438Ile
XM_005262157.3:c.4274C>T	XP_005262214.2:p.Thr1425Ile
XM_006724666.2:c.4361C>T	XP_006724729.1:p.Thr1454Ile
XM_006724667.2:c.4199C>T	XP_006724730.1:p.Thr1400Ile
XM_006724668.2:c.4478C>T	XP_006724731.1:p.Thr1493Ile
XR_938400.1:n.4746C>T
NM_000489.5:c.4478C>T	NP_000480.3:p.Thr1493Ile
XM_005262153.5:c.4475C>T	XP_005262210.2:p.Thr1492Ile
XM_005262154.5:c.4391C>T	XP_005262211.2:p.Thr1464Ile
XM_005262155.4:c.4361C>T	XP_005262212.2:p.Thr1454Ile
XM_005262156.4:c.4313C>T	XP_005262213.2:p.Thr1438Ile
XM_005262157.5:c.4274C>T	XP_005262214.2:p.Thr1425Ile
XM_006724666.4:c.4361C>T	XP_006724729.1:p.Thr1454Ile
XM_006724667.3:c.4199C>T	XP_006724730.1:p.Thr1400Ile
XM_006724668.3:c.4478C>T	XP_006724731.1:p.Thr1493Ile
XM_017029601.2:c.4388C>T	XP_016885090.1:p.Thr1463Ile
XM_017029602.1:c.4358C>T	XP_016885091.1:p.Thr1453Ile
XM_017029603.1:c.4310C>T	XP_016885092.1:p.Thr1437Ile
XM_017029604.2:c.4277C>T	XP_016885093.1:p.Thr1426Ile
XM_017029605.1:c.4274C>T	XP_016885094.1:p.Thr1425Ile
XM_017029606.2:c.4247C>T	XP_016885095.1:p.Thr1416Ile
XM_017029607.2:c.4244C>T	XP_016885096.1:p.Thr1415Ile
XM_017029608.2:c.4196C>T	XP_016885097.1:p.Thr1399Ile
XM_017029609.1:c.4160C>T	XP_016885098.1:p.Thr1387Ile
XM_017029610.1:c.4157C>T	XP_016885099.1:p.Thr1386Ile
XM_017029611.1:c.4112C>T	XP_016885100.1:p.Thr1371Ile
XR_001755700.2:n.4703C>T
NM_138270.4:c.4364C>T	NP_612114.2:p.Thr1455Ile
NM_000489.6:c.4478C>T MANE Select	NP_000480.3:p.Thr1493Ile
NM_138270.5:c.4364C>T	NP_612114.2:p.Thr1455Ile