Canonical Allele Identifier: CA413708879

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76907814T>G (hg19) ; chrX:g.77652324T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652324T>G , CM000685.2:g.77652324T>G	GRCh38
NC_000023.10:g.76907814T>G , CM000685.1:g.76907814T>G	GRCh37
NC_000023.9:g.76794470T>G	NCBI36
NG_008838.2:g.138898A>C
NG_008838.3:g.138946A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4347A>C MANE Select	ENSP00000362441.4:p.Lys1449Asn
ENST00000373344.9:c.4347A>C	ENSP00000362441.4:p.Lys1449Asn
ENST00000395603.7:c.4233A>C	ENSP00000378967.3:p.Lys1411Asn
ENST00000480283.5:c.*3975A>C	ENSP00000480196.1:n.*3975A>C
NM_000489.4:c.4347A>C	NP_000480.3:p.Lys1449Asn
NM_138270.3:c.4233A>C	NP_612114.2:p.Lys1411Asn
XM_005262153.3:c.4344A>C	XP_005262210.2:p.Lys1448Asn
XM_005262154.3:c.4260A>C	XP_005262211.2:p.Lys1420Asn
XM_005262155.3:c.4230A>C	XP_005262212.2:p.Lys1410Asn
XM_005262156.3:c.4182A>C	XP_005262213.2:p.Lys1394Asn
XM_005262157.3:c.4143A>C	XP_005262214.2:p.Lys1381Asn
XM_006724666.2:c.4230A>C	XP_006724729.1:p.Lys1410Asn
XM_006724667.2:c.4068A>C	XP_006724730.1:p.Lys1356Asn
XM_006724668.2:c.4347A>C	XP_006724731.1:p.Lys1449Asn
XR_938400.1:n.4615A>C
NM_000489.5:c.4347A>C	NP_000480.3:p.Lys1449Asn
XM_005262153.5:c.4344A>C	XP_005262210.2:p.Lys1448Asn
XM_005262154.5:c.4260A>C	XP_005262211.2:p.Lys1420Asn
XM_005262155.4:c.4230A>C	XP_005262212.2:p.Lys1410Asn
XM_005262156.4:c.4182A>C	XP_005262213.2:p.Lys1394Asn
XM_005262157.5:c.4143A>C	XP_005262214.2:p.Lys1381Asn
XM_006724666.4:c.4230A>C	XP_006724729.1:p.Lys1410Asn
XM_006724667.3:c.4068A>C	XP_006724730.1:p.Lys1356Asn
XM_006724668.3:c.4347A>C	XP_006724731.1:p.Lys1449Asn
XM_017029601.2:c.4257A>C	XP_016885090.1:p.Lys1419Asn
XM_017029602.1:c.4227A>C	XP_016885091.1:p.Lys1409Asn
XM_017029603.1:c.4179A>C	XP_016885092.1:p.Lys1393Asn
XM_017029604.2:c.4146A>C	XP_016885093.1:p.Lys1382Asn
XM_017029605.1:c.4143A>C	XP_016885094.1:p.Lys1381Asn
XM_017029606.2:c.4116A>C	XP_016885095.1:p.Lys1372Asn
XM_017029607.2:c.4113A>C	XP_016885096.1:p.Lys1371Asn
XM_017029608.2:c.4065A>C	XP_016885097.1:p.Lys1355Asn
XM_017029609.1:c.4029A>C	XP_016885098.1:p.Lys1343Asn
XM_017029610.1:c.4026A>C	XP_016885099.1:p.Lys1342Asn
XM_017029611.1:c.3981A>C	XP_016885100.1:p.Lys1327Asn
XR_001755700.2:n.4572A>C
NM_138270.4:c.4233A>C	NP_612114.2:p.Lys1411Asn
NM_000489.6:c.4347A>C MANE Select	NP_000480.3:p.Lys1449Asn
NM_138270.5:c.4233A>C	NP_612114.2:p.Lys1411Asn