Canonical Allele Identifier: CA413708747

Gene: ATRX

Linked Data

• dbSNP Id: rs2148439570
• MyVariant Identifiers: chrX:g.76907792C>T (hg19) ; chrX:g.77652302C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652302C>T , CM000685.2:g.77652302C>T	GRCh38
NC_000023.10:g.76907792C>T , CM000685.1:g.76907792C>T	GRCh37
NC_000023.9:g.76794448C>T	NCBI36
NG_008838.2:g.138920G>A
NG_008838.3:g.138968G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4369G>A MANE Select	ENSP00000362441.4:p.Glu1457Lys
ENST00000373344.9:c.4369G>A	ENSP00000362441.4:p.Glu1457Lys
ENST00000395603.7:c.4255G>A	ENSP00000378967.3:p.Glu1419Lys
ENST00000480283.5:c.*3997G>A	ENSP00000480196.1:n.*3997G>A
NM_000489.4:c.4369G>A	NP_000480.3:p.Glu1457Lys
NM_138270.3:c.4255G>A	NP_612114.2:p.Glu1419Lys
XM_005262153.3:c.4366G>A	XP_005262210.2:p.Glu1456Lys
XM_005262154.3:c.4282G>A	XP_005262211.2:p.Glu1428Lys
XM_005262155.3:c.4252G>A	XP_005262212.2:p.Glu1418Lys
XM_005262156.3:c.4204G>A	XP_005262213.2:p.Glu1402Lys
XM_005262157.3:c.4165G>A	XP_005262214.2:p.Glu1389Lys
XM_006724666.2:c.4252G>A	XP_006724729.1:p.Glu1418Lys
XM_006724667.2:c.4090G>A	XP_006724730.1:p.Glu1364Lys
XM_006724668.2:c.4369G>A	XP_006724731.1:p.Glu1457Lys
XR_938400.1:n.4637G>A
NM_000489.5:c.4369G>A	NP_000480.3:p.Glu1457Lys
XM_005262153.5:c.4366G>A	XP_005262210.2:p.Glu1456Lys
XM_005262154.5:c.4282G>A	XP_005262211.2:p.Glu1428Lys
XM_005262155.4:c.4252G>A	XP_005262212.2:p.Glu1418Lys
XM_005262156.4:c.4204G>A	XP_005262213.2:p.Glu1402Lys
XM_005262157.5:c.4165G>A	XP_005262214.2:p.Glu1389Lys
XM_006724666.4:c.4252G>A	XP_006724729.1:p.Glu1418Lys
XM_006724667.3:c.4090G>A	XP_006724730.1:p.Glu1364Lys
XM_006724668.3:c.4369G>A	XP_006724731.1:p.Glu1457Lys
XM_017029601.2:c.4279G>A	XP_016885090.1:p.Glu1427Lys
XM_017029602.1:c.4249G>A	XP_016885091.1:p.Glu1417Lys
XM_017029603.1:c.4201G>A	XP_016885092.1:p.Glu1401Lys
XM_017029604.2:c.4168G>A	XP_016885093.1:p.Glu1390Lys
XM_017029605.1:c.4165G>A	XP_016885094.1:p.Glu1389Lys
XM_017029606.2:c.4138G>A	XP_016885095.1:p.Glu1380Lys
XM_017029607.2:c.4135G>A	XP_016885096.1:p.Glu1379Lys
XM_017029608.2:c.4087G>A	XP_016885097.1:p.Glu1363Lys
XM_017029609.1:c.4051G>A	XP_016885098.1:p.Glu1351Lys
XM_017029610.1:c.4048G>A	XP_016885099.1:p.Glu1350Lys
XM_017029611.1:c.4003G>A	XP_016885100.1:p.Glu1335Lys
XR_001755700.2:n.4594G>A
NM_138270.4:c.4255G>A	NP_612114.2:p.Glu1419Lys
NM_000489.6:c.4369G>A MANE Select	NP_000480.3:p.Glu1457Lys
NM_138270.5:c.4255G>A	NP_612114.2:p.Glu1419Lys