Canonical Allele Identifier: CA413708301

Gene: ATRX

Linked Data

• dbSNP Id: rs2148437763
• MyVariant Identifiers: chrX:g.76907724T>G (hg19) ; chrX:g.77652234T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652234T>G , CM000685.2:g.77652234T>G	GRCh38
NC_000023.10:g.76907724T>G , CM000685.1:g.76907724T>G	GRCh37
NC_000023.9:g.76794380T>G	NCBI36
NG_008838.2:g.138988A>C
NG_008838.3:g.139036A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4437A>C MANE Select	ENSP00000362441.4:p.Lys1479Asn
ENST00000373344.9:c.4437A>C	ENSP00000362441.4:p.Lys1479Asn
ENST00000395603.7:c.4323A>C	ENSP00000378967.3:p.Lys1441Asn
ENST00000480283.5:c.*4065A>C	ENSP00000480196.1:n.*4065A>C
ENST00000623242.3:c.43A>C
NM_000489.4:c.4437A>C	NP_000480.3:p.Lys1479Asn
NM_138270.3:c.4323A>C	NP_612114.2:p.Lys1441Asn
XM_005262153.3:c.4434A>C	XP_005262210.2:p.Lys1478Asn
XM_005262154.3:c.4350A>C	XP_005262211.2:p.Lys1450Asn
XM_005262155.3:c.4320A>C	XP_005262212.2:p.Lys1440Asn
XM_005262156.3:c.4272A>C	XP_005262213.2:p.Lys1424Asn
XM_005262157.3:c.4233A>C	XP_005262214.2:p.Lys1411Asn
XM_006724666.2:c.4320A>C	XP_006724729.1:p.Lys1440Asn
XM_006724667.2:c.4158A>C	XP_006724730.1:p.Lys1386Asn
XM_006724668.2:c.4437A>C	XP_006724731.1:p.Lys1479Asn
XR_938400.1:n.4705A>C
NM_000489.5:c.4437A>C	NP_000480.3:p.Lys1479Asn
XM_005262153.5:c.4434A>C	XP_005262210.2:p.Lys1478Asn
XM_005262154.5:c.4350A>C	XP_005262211.2:p.Lys1450Asn
XM_005262155.4:c.4320A>C	XP_005262212.2:p.Lys1440Asn
XM_005262156.4:c.4272A>C	XP_005262213.2:p.Lys1424Asn
XM_005262157.5:c.4233A>C	XP_005262214.2:p.Lys1411Asn
XM_006724666.4:c.4320A>C	XP_006724729.1:p.Lys1440Asn
XM_006724667.3:c.4158A>C	XP_006724730.1:p.Lys1386Asn
XM_006724668.3:c.4437A>C	XP_006724731.1:p.Lys1479Asn
XM_017029601.2:c.4347A>C	XP_016885090.1:p.Lys1449Asn
XM_017029602.1:c.4317A>C	XP_016885091.1:p.Lys1439Asn
XM_017029603.1:c.4269A>C	XP_016885092.1:p.Lys1423Asn
XM_017029604.2:c.4236A>C	XP_016885093.1:p.Lys1412Asn
XM_017029605.1:c.4233A>C	XP_016885094.1:p.Lys1411Asn
XM_017029606.2:c.4206A>C	XP_016885095.1:p.Lys1402Asn
XM_017029607.2:c.4203A>C	XP_016885096.1:p.Lys1401Asn
XM_017029608.2:c.4155A>C	XP_016885097.1:p.Lys1385Asn
XM_017029609.1:c.4119A>C	XP_016885098.1:p.Lys1373Asn
XM_017029610.1:c.4116A>C	XP_016885099.1:p.Lys1372Asn
XM_017029611.1:c.4071A>C	XP_016885100.1:p.Lys1357Asn
XR_001755700.2:n.4662A>C
NM_138270.4:c.4323A>C	NP_612114.2:p.Lys1441Asn
NM_000489.6:c.4437A>C MANE Select	NP_000480.3:p.Lys1479Asn
NM_138270.5:c.4323A>C	NP_612114.2:p.Lys1441Asn