Canonical Allele Identifier: CA10457799

Gene: ATRX

Linked Data

• dbSNP Id: rs782405215
• ExAC: X:76907780 C / T
• gnomAD v2: X-76907780-C-T
• MyVariant Identifiers: chrX:g.76907780C>T (hg19) ; chrX:g.77652290C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652290C>T , CM000685.2:g.77652290C>T	GRCh38
NC_000023.10:g.76907780C>T , CM000685.1:g.76907780C>T	GRCh37
NC_000023.9:g.76794436C>T	NCBI36
NG_008838.2:g.138932G>A
NG_008838.3:g.138980G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4381G>A MANE Select	ENSP00000362441.4:p.Glu1461Lys
ENST00000373344.9:c.4381G>A	ENSP00000362441.4:p.Glu1461Lys
ENST00000395603.7:c.4267G>A	ENSP00000378967.3:p.Glu1423Lys
ENST00000480283.5:c.*4009G>A	ENSP00000480196.1:n.*4009G>A
NM_000489.4:c.4381G>A	NP_000480.3:p.Glu1461Lys
NM_138270.3:c.4267G>A	NP_612114.2:p.Glu1423Lys
XM_005262153.3:c.4378G>A	XP_005262210.2:p.Glu1460Lys
XM_005262154.3:c.4294G>A	XP_005262211.2:p.Glu1432Lys
XM_005262155.3:c.4264G>A	XP_005262212.2:p.Glu1422Lys
XM_005262156.3:c.4216G>A	XP_005262213.2:p.Glu1406Lys
XM_005262157.3:c.4177G>A	XP_005262214.2:p.Glu1393Lys
XM_006724666.2:c.4264G>A	XP_006724729.1:p.Glu1422Lys
XM_006724667.2:c.4102G>A	XP_006724730.1:p.Glu1368Lys
XM_006724668.2:c.4381G>A	XP_006724731.1:p.Glu1461Lys
XR_938400.1:n.4649G>A
NM_000489.5:c.4381G>A	NP_000480.3:p.Glu1461Lys
XM_005262153.5:c.4378G>A	XP_005262210.2:p.Glu1460Lys
XM_005262154.5:c.4294G>A	XP_005262211.2:p.Glu1432Lys
XM_005262155.4:c.4264G>A	XP_005262212.2:p.Glu1422Lys
XM_005262156.4:c.4216G>A	XP_005262213.2:p.Glu1406Lys
XM_005262157.5:c.4177G>A	XP_005262214.2:p.Glu1393Lys
XM_006724666.4:c.4264G>A	XP_006724729.1:p.Glu1422Lys
XM_006724667.3:c.4102G>A	XP_006724730.1:p.Glu1368Lys
XM_006724668.3:c.4381G>A	XP_006724731.1:p.Glu1461Lys
XM_017029601.2:c.4291G>A	XP_016885090.1:p.Glu1431Lys
XM_017029602.1:c.4261G>A	XP_016885091.1:p.Glu1421Lys
XM_017029603.1:c.4213G>A	XP_016885092.1:p.Glu1405Lys
XM_017029604.2:c.4180G>A	XP_016885093.1:p.Glu1394Lys
XM_017029605.1:c.4177G>A	XP_016885094.1:p.Glu1393Lys
XM_017029606.2:c.4150G>A	XP_016885095.1:p.Glu1384Lys
XM_017029607.2:c.4147G>A	XP_016885096.1:p.Glu1383Lys
XM_017029608.2:c.4099G>A	XP_016885097.1:p.Glu1367Lys
XM_017029609.1:c.4063G>A	XP_016885098.1:p.Glu1355Lys
XM_017029610.1:c.4060G>A	XP_016885099.1:p.Glu1354Lys
XM_017029611.1:c.4015G>A	XP_016885100.1:p.Glu1339Lys
XR_001755700.2:n.4606G>A
NM_138270.4:c.4267G>A	NP_612114.2:p.Glu1423Lys
NM_000489.6:c.4381G>A MANE Select	NP_000480.3:p.Glu1461Lys
NM_138270.5:c.4267G>A	NP_612114.2:p.Glu1423Lys