Canonical Allele Identifier: CA413708244

Gene: ATRX

Linked Data

• dbSNP Id: rs2148437521
• MyVariant Identifiers: chrX:g.76907713A>T (hg19) ; chrX:g.77652223A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652223A>T , CM000685.2:g.77652223A>T	GRCh38
NC_000023.10:g.76907713A>T , CM000685.1:g.76907713A>T	GRCh37
NC_000023.9:g.76794369A>T	NCBI36
NG_008838.2:g.138999T>A
NG_008838.3:g.139047T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4448T>A MANE Select	ENSP00000362441.4:p.Ile1483Asn
ENST00000373344.9:c.4448T>A	ENSP00000362441.4:p.Ile1483Asn
ENST00000395603.7:c.4334T>A	ENSP00000378967.3:p.Ile1445Asn
ENST00000480283.5:c.*4076T>A	ENSP00000480196.1:n.*4076T>A
ENST00000623242.3:c.54T>A
NM_000489.4:c.4448T>A	NP_000480.3:p.Ile1483Asn
NM_138270.3:c.4334T>A	NP_612114.2:p.Ile1445Asn
XM_005262153.3:c.4445T>A	XP_005262210.2:p.Ile1482Asn
XM_005262154.3:c.4361T>A	XP_005262211.2:p.Ile1454Asn
XM_005262155.3:c.4331T>A	XP_005262212.2:p.Ile1444Asn
XM_005262156.3:c.4283T>A	XP_005262213.2:p.Ile1428Asn
XM_005262157.3:c.4244T>A	XP_005262214.2:p.Ile1415Asn
XM_006724666.2:c.4331T>A	XP_006724729.1:p.Ile1444Asn
XM_006724667.2:c.4169T>A	XP_006724730.1:p.Ile1390Asn
XM_006724668.2:c.4448T>A	XP_006724731.1:p.Ile1483Asn
XR_938400.1:n.4716T>A
NM_000489.5:c.4448T>A	NP_000480.3:p.Ile1483Asn
XM_005262153.5:c.4445T>A	XP_005262210.2:p.Ile1482Asn
XM_005262154.5:c.4361T>A	XP_005262211.2:p.Ile1454Asn
XM_005262155.4:c.4331T>A	XP_005262212.2:p.Ile1444Asn
XM_005262156.4:c.4283T>A	XP_005262213.2:p.Ile1428Asn
XM_005262157.5:c.4244T>A	XP_005262214.2:p.Ile1415Asn
XM_006724666.4:c.4331T>A	XP_006724729.1:p.Ile1444Asn
XM_006724667.3:c.4169T>A	XP_006724730.1:p.Ile1390Asn
XM_006724668.3:c.4448T>A	XP_006724731.1:p.Ile1483Asn
XM_017029601.2:c.4358T>A	XP_016885090.1:p.Ile1453Asn
XM_017029602.1:c.4328T>A	XP_016885091.1:p.Ile1443Asn
XM_017029603.1:c.4280T>A	XP_016885092.1:p.Ile1427Asn
XM_017029604.2:c.4247T>A	XP_016885093.1:p.Ile1416Asn
XM_017029605.1:c.4244T>A	XP_016885094.1:p.Ile1415Asn
XM_017029606.2:c.4217T>A	XP_016885095.1:p.Ile1406Asn
XM_017029607.2:c.4214T>A	XP_016885096.1:p.Ile1405Asn
XM_017029608.2:c.4166T>A	XP_016885097.1:p.Ile1389Asn
XM_017029609.1:c.4130T>A	XP_016885098.1:p.Ile1377Asn
XM_017029610.1:c.4127T>A	XP_016885099.1:p.Ile1376Asn
XM_017029611.1:c.4082T>A	XP_016885100.1:p.Ile1361Asn
XR_001755700.2:n.4673T>A
NM_138270.4:c.4334T>A	NP_612114.2:p.Ile1445Asn
NM_000489.6:c.4448T>A MANE Select	NP_000480.3:p.Ile1483Asn
NM_138270.5:c.4334T>A	NP_612114.2:p.Ile1445Asn