Canonical Allele Identifier: CA413709026

Gene: ATRX

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4319G>T MANE Select	ENSP00000362441.4:p.Ser1440Ile
ENST00000373344.9:c.4319G>T	ENSP00000362441.4:p.Ser1440Ile
ENST00000395603.7:c.4205G>T	ENSP00000378967.3:p.Ser1402Ile
ENST00000480283.5:c.*3947G>T	ENSP00000480196.1:n.*3947G>T
NM_000489.4:c.4319G>T	NP_000480.3:p.Ser1440Ile
NM_138270.3:c.4205G>T	NP_612114.2:p.Ser1402Ile
XM_005262153.3:c.4316G>T	XP_005262210.2:p.Ser1439Ile
XM_005262154.3:c.4232G>T	XP_005262211.2:p.Ser1411Ile
XM_005262155.3:c.4202G>T	XP_005262212.2:p.Ser1401Ile
XM_005262156.3:c.4154G>T	XP_005262213.2:p.Ser1385Ile
XM_005262157.3:c.4115G>T	XP_005262214.2:p.Ser1372Ile
XM_006724666.2:c.4202G>T	XP_006724729.1:p.Ser1401Ile
XM_006724667.2:c.4040G>T	XP_006724730.1:p.Ser1347Ile
XM_006724668.2:c.4319G>T	XP_006724731.1:p.Ser1440Ile
XR_938400.1:n.4587G>T
NM_000489.5:c.4319G>T	NP_000480.3:p.Ser1440Ile
XM_005262153.5:c.4316G>T	XP_005262210.2:p.Ser1439Ile
XM_005262154.5:c.4232G>T	XP_005262211.2:p.Ser1411Ile
XM_005262155.4:c.4202G>T	XP_005262212.2:p.Ser1401Ile
XM_005262156.4:c.4154G>T	XP_005262213.2:p.Ser1385Ile
XM_005262157.5:c.4115G>T	XP_005262214.2:p.Ser1372Ile
XM_006724666.4:c.4202G>T	XP_006724729.1:p.Ser1401Ile
XM_006724667.3:c.4040G>T	XP_006724730.1:p.Ser1347Ile
XM_006724668.3:c.4319G>T	XP_006724731.1:p.Ser1440Ile
XM_017029601.2:c.4229G>T	XP_016885090.1:p.Ser1410Ile
XM_017029602.1:c.4199G>T	XP_016885091.1:p.Ser1400Ile
XM_017029603.1:c.4151G>T	XP_016885092.1:p.Ser1384Ile
XM_017029604.2:c.4118G>T	XP_016885093.1:p.Ser1373Ile
XM_017029605.1:c.4115G>T	XP_016885094.1:p.Ser1372Ile
XM_017029606.2:c.4088G>T	XP_016885095.1:p.Ser1363Ile
XM_017029607.2:c.4085G>T	XP_016885096.1:p.Ser1362Ile
XM_017029608.2:c.4037G>T	XP_016885097.1:p.Ser1346Ile
XM_017029609.1:c.4001G>T	XP_016885098.1:p.Ser1334Ile
XM_017029610.1:c.3998G>T	XP_016885099.1:p.Ser1333Ile
XM_017029611.1:c.3953G>T	XP_016885100.1:p.Ser1318Ile
XR_001755700.2:n.4544G>T
NM_138270.4:c.4205G>T	NP_612114.2:p.Ser1402Ile
NM_000489.6:c.4319G>T MANE Select	NP_000480.3:p.Ser1440Ile
NM_138270.5:c.4205G>T	NP_612114.2:p.Ser1402Ile