Canonical Allele Identifier: CA413709030

Gene: ATRX

Linked Data

• dbSNP Id: rs2148440739
• MyVariant Identifiers: chrX:g.76907842C>T (hg19) ; chrX:g.77652352C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652352C>T , CM000685.2:g.77652352C>T	GRCh38
NC_000023.10:g.76907842C>T , CM000685.1:g.76907842C>T	GRCh37
NC_000023.9:g.76794498C>T	NCBI36
NG_008838.2:g.138870G>A
NG_008838.3:g.138918G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4319G>A MANE Select	ENSP00000362441.4:p.Ser1440Asn
ENST00000373344.9:c.4319G>A	ENSP00000362441.4:p.Ser1440Asn
ENST00000395603.7:c.4205G>A	ENSP00000378967.3:p.Ser1402Asn
ENST00000480283.5:c.*3947G>A	ENSP00000480196.1:n.*3947G>A
NM_000489.4:c.4319G>A	NP_000480.3:p.Ser1440Asn
NM_138270.3:c.4205G>A	NP_612114.2:p.Ser1402Asn
XM_005262153.3:c.4316G>A	XP_005262210.2:p.Ser1439Asn
XM_005262154.3:c.4232G>A	XP_005262211.2:p.Ser1411Asn
XM_005262155.3:c.4202G>A	XP_005262212.2:p.Ser1401Asn
XM_005262156.3:c.4154G>A	XP_005262213.2:p.Ser1385Asn
XM_005262157.3:c.4115G>A	XP_005262214.2:p.Ser1372Asn
XM_006724666.2:c.4202G>A	XP_006724729.1:p.Ser1401Asn
XM_006724667.2:c.4040G>A	XP_006724730.1:p.Ser1347Asn
XM_006724668.2:c.4319G>A	XP_006724731.1:p.Ser1440Asn
XR_938400.1:n.4587G>A
NM_000489.5:c.4319G>A	NP_000480.3:p.Ser1440Asn
XM_005262153.5:c.4316G>A	XP_005262210.2:p.Ser1439Asn
XM_005262154.5:c.4232G>A	XP_005262211.2:p.Ser1411Asn
XM_005262155.4:c.4202G>A	XP_005262212.2:p.Ser1401Asn
XM_005262156.4:c.4154G>A	XP_005262213.2:p.Ser1385Asn
XM_005262157.5:c.4115G>A	XP_005262214.2:p.Ser1372Asn
XM_006724666.4:c.4202G>A	XP_006724729.1:p.Ser1401Asn
XM_006724667.3:c.4040G>A	XP_006724730.1:p.Ser1347Asn
XM_006724668.3:c.4319G>A	XP_006724731.1:p.Ser1440Asn
XM_017029601.2:c.4229G>A	XP_016885090.1:p.Ser1410Asn
XM_017029602.1:c.4199G>A	XP_016885091.1:p.Ser1400Asn
XM_017029603.1:c.4151G>A	XP_016885092.1:p.Ser1384Asn
XM_017029604.2:c.4118G>A	XP_016885093.1:p.Ser1373Asn
XM_017029605.1:c.4115G>A	XP_016885094.1:p.Ser1372Asn
XM_017029606.2:c.4088G>A	XP_016885095.1:p.Ser1363Asn
XM_017029607.2:c.4085G>A	XP_016885096.1:p.Ser1362Asn
XM_017029608.2:c.4037G>A	XP_016885097.1:p.Ser1346Asn
XM_017029609.1:c.4001G>A	XP_016885098.1:p.Ser1334Asn
XM_017029610.1:c.3998G>A	XP_016885099.1:p.Ser1333Asn
XM_017029611.1:c.3953G>A	XP_016885100.1:p.Ser1318Asn
XR_001755700.2:n.4544G>A
NM_138270.4:c.4205G>A	NP_612114.2:p.Ser1402Asn
NM_000489.6:c.4319G>A MANE Select	NP_000480.3:p.Ser1440Asn
NM_138270.5:c.4205G>A	NP_612114.2:p.Ser1402Asn