Canonical Allele Identifier: CA413708043

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76907674G>T (hg19) ; chrX:g.77652184G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652184G>T , CM000685.2:g.77652184G>T	GRCh38
NC_000023.10:g.76907674G>T , CM000685.1:g.76907674G>T	GRCh37
NC_000023.9:g.76794330G>T	NCBI36
NG_008838.2:g.139038C>A
NG_008838.3:g.139086C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4487C>A MANE Select	ENSP00000362441.4:p.Ala1496Asp
ENST00000373344.9:c.4487C>A	ENSP00000362441.4:p.Ala1496Asp
ENST00000395603.7:c.4373C>A	ENSP00000378967.3:p.Ala1458Asp
ENST00000480283.5:c.*4115C>A	ENSP00000480196.1:n.*4115C>A
ENST00000623242.3:c.93C>A
NM_000489.4:c.4487C>A	NP_000480.3:p.Ala1496Asp
NM_138270.3:c.4373C>A	NP_612114.2:p.Ala1458Asp
XM_005262153.3:c.4484C>A	XP_005262210.2:p.Ala1495Asp
XM_005262154.3:c.4400C>A	XP_005262211.2:p.Ala1467Asp
XM_005262155.3:c.4370C>A	XP_005262212.2:p.Ala1457Asp
XM_005262156.3:c.4322C>A	XP_005262213.2:p.Ala1441Asp
XM_005262157.3:c.4283C>A	XP_005262214.2:p.Ala1428Asp
XM_006724666.2:c.4370C>A	XP_006724729.1:p.Ala1457Asp
XM_006724667.2:c.4208C>A	XP_006724730.1:p.Ala1403Asp
XM_006724668.2:c.4487C>A	XP_006724731.1:p.Ala1496Asp
XR_938400.1:n.4755C>A
NM_000489.5:c.4487C>A	NP_000480.3:p.Ala1496Asp
XM_005262153.5:c.4484C>A	XP_005262210.2:p.Ala1495Asp
XM_005262154.5:c.4400C>A	XP_005262211.2:p.Ala1467Asp
XM_005262155.4:c.4370C>A	XP_005262212.2:p.Ala1457Asp
XM_005262156.4:c.4322C>A	XP_005262213.2:p.Ala1441Asp
XM_005262157.5:c.4283C>A	XP_005262214.2:p.Ala1428Asp
XM_006724666.4:c.4370C>A	XP_006724729.1:p.Ala1457Asp
XM_006724667.3:c.4208C>A	XP_006724730.1:p.Ala1403Asp
XM_006724668.3:c.4487C>A	XP_006724731.1:p.Ala1496Asp
XM_017029601.2:c.4397C>A	XP_016885090.1:p.Ala1466Asp
XM_017029602.1:c.4367C>A	XP_016885091.1:p.Ala1456Asp
XM_017029603.1:c.4319C>A	XP_016885092.1:p.Ala1440Asp
XM_017029604.2:c.4286C>A	XP_016885093.1:p.Ala1429Asp
XM_017029605.1:c.4283C>A	XP_016885094.1:p.Ala1428Asp
XM_017029606.2:c.4256C>A	XP_016885095.1:p.Ala1419Asp
XM_017029607.2:c.4253C>A	XP_016885096.1:p.Ala1418Asp
XM_017029608.2:c.4205C>A	XP_016885097.1:p.Ala1402Asp
XM_017029609.1:c.4169C>A	XP_016885098.1:p.Ala1390Asp
XM_017029610.1:c.4166C>A	XP_016885099.1:p.Ala1389Asp
XM_017029611.1:c.4121C>A	XP_016885100.1:p.Ala1374Asp
XR_001755700.2:n.4712C>A
NM_138270.4:c.4373C>A	NP_612114.2:p.Ala1458Asp
NM_000489.6:c.4487C>A MANE Select	NP_000480.3:p.Ala1496Asp
NM_138270.5:c.4373C>A	NP_612114.2:p.Ala1458Asp