Canonical Allele Identifier: CA413708059

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76907676A>T (hg19) ; chrX:g.77652186A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652186A>T , CM000685.2:g.77652186A>T	GRCh38
NC_000023.10:g.76907676A>T , CM000685.1:g.76907676A>T	GRCh37
NC_000023.9:g.76794332A>T	NCBI36
NG_008838.2:g.139036T>A
NG_008838.3:g.139084T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4485T>A MANE Select	ENSP00000362441.4:p.Asn1495Lys
ENST00000373344.9:c.4485T>A	ENSP00000362441.4:p.Asn1495Lys
ENST00000395603.7:c.4371T>A	ENSP00000378967.3:p.Asn1457Lys
ENST00000480283.5:c.*4113T>A	ENSP00000480196.1:n.*4113T>A
ENST00000623242.3:c.91T>A
NM_000489.4:c.4485T>A	NP_000480.3:p.Asn1495Lys
NM_138270.3:c.4371T>A	NP_612114.2:p.Asn1457Lys
XM_005262153.3:c.4482T>A	XP_005262210.2:p.Asn1494Lys
XM_005262154.3:c.4398T>A	XP_005262211.2:p.Asn1466Lys
XM_005262155.3:c.4368T>A	XP_005262212.2:p.Asn1456Lys
XM_005262156.3:c.4320T>A	XP_005262213.2:p.Asn1440Lys
XM_005262157.3:c.4281T>A	XP_005262214.2:p.Asn1427Lys
XM_006724666.2:c.4368T>A	XP_006724729.1:p.Asn1456Lys
XM_006724667.2:c.4206T>A	XP_006724730.1:p.Asn1402Lys
XM_006724668.2:c.4485T>A	XP_006724731.1:p.Asn1495Lys
XR_938400.1:n.4753T>A
NM_000489.5:c.4485T>A	NP_000480.3:p.Asn1495Lys
XM_005262153.5:c.4482T>A	XP_005262210.2:p.Asn1494Lys
XM_005262154.5:c.4398T>A	XP_005262211.2:p.Asn1466Lys
XM_005262155.4:c.4368T>A	XP_005262212.2:p.Asn1456Lys
XM_005262156.4:c.4320T>A	XP_005262213.2:p.Asn1440Lys
XM_005262157.5:c.4281T>A	XP_005262214.2:p.Asn1427Lys
XM_006724666.4:c.4368T>A	XP_006724729.1:p.Asn1456Lys
XM_006724667.3:c.4206T>A	XP_006724730.1:p.Asn1402Lys
XM_006724668.3:c.4485T>A	XP_006724731.1:p.Asn1495Lys
XM_017029601.2:c.4395T>A	XP_016885090.1:p.Asn1465Lys
XM_017029602.1:c.4365T>A	XP_016885091.1:p.Asn1455Lys
XM_017029603.1:c.4317T>A	XP_016885092.1:p.Asn1439Lys
XM_017029604.2:c.4284T>A	XP_016885093.1:p.Asn1428Lys
XM_017029605.1:c.4281T>A	XP_016885094.1:p.Asn1427Lys
XM_017029606.2:c.4254T>A	XP_016885095.1:p.Asn1418Lys
XM_017029607.2:c.4251T>A	XP_016885096.1:p.Asn1417Lys
XM_017029608.2:c.4203T>A	XP_016885097.1:p.Asn1401Lys
XM_017029609.1:c.4167T>A	XP_016885098.1:p.Asn1389Lys
XM_017029610.1:c.4164T>A	XP_016885099.1:p.Asn1388Lys
XM_017029611.1:c.4119T>A	XP_016885100.1:p.Asn1373Lys
XR_001755700.2:n.4710T>A
NM_138270.4:c.4371T>A	NP_612114.2:p.Asn1457Lys
NM_000489.6:c.4485T>A MANE Select	NP_000480.3:p.Asn1495Lys
NM_138270.5:c.4371T>A	NP_612114.2:p.Asn1457Lys