Canonical Allele Identifier: CA517471483

Gene: ATRX

Linked Data

• dbSNP Id: rs2148438211
• MyVariant Identifiers: chrX:g.76907742A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652252A>G , CM000685.2:g.77652252A>G	GRCh38
NC_000023.10:g.76907742A>G , CM000685.1:g.76907742A>G	GRCh37
NC_000023.9:g.76794398A>G	NCBI36
NG_008838.2:g.138970T>C
NG_008838.3:g.139018T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4419T>C MANE Select	ENSP00000362441.4:p.Pro1473=
ENST00000373344.9:c.4419T>C	ENSP00000362441.4:p.Pro1473=
ENST00000395603.7:c.4305T>C	ENSP00000378967.3:p.Pro1435=
ENST00000480283.5:c.*4047T>C	ENSP00000480196.1:n.*4047T>C
ENST00000623242.3:c.25T>C
NM_000489.4:c.4419T>C	NP_000480.3:p.Pro1473=
NM_138270.3:c.4305T>C	NP_612114.2:p.Pro1435=
XM_005262153.3:c.4416T>C	XP_005262210.2:p.Pro1472=
XM_005262154.3:c.4332T>C	XP_005262211.2:p.Pro1444=
XM_005262155.3:c.4302T>C	XP_005262212.2:p.Pro1434=
XM_005262156.3:c.4254T>C	XP_005262213.2:p.Pro1418=
XM_005262157.3:c.4215T>C	XP_005262214.2:p.Pro1405=
XM_006724666.2:c.4302T>C	XP_006724729.1:p.Pro1434=
XM_006724667.2:c.4140T>C	XP_006724730.1:p.Pro1380=
XM_006724668.2:c.4419T>C	XP_006724731.1:p.Pro1473=
XR_938400.1:n.4687T>C
NM_000489.5:c.4419T>C	NP_000480.3:p.Pro1473=
XM_005262153.5:c.4416T>C	XP_005262210.2:p.Pro1472=
XM_005262154.5:c.4332T>C	XP_005262211.2:p.Pro1444=
XM_005262155.4:c.4302T>C	XP_005262212.2:p.Pro1434=
XM_005262156.4:c.4254T>C	XP_005262213.2:p.Pro1418=
XM_005262157.5:c.4215T>C	XP_005262214.2:p.Pro1405=
XM_006724666.4:c.4302T>C	XP_006724729.1:p.Pro1434=
XM_006724667.3:c.4140T>C	XP_006724730.1:p.Pro1380=
XM_006724668.3:c.4419T>C	XP_006724731.1:p.Pro1473=
XM_017029601.2:c.4329T>C	XP_016885090.1:p.Pro1443=
XM_017029602.1:c.4299T>C	XP_016885091.1:p.Pro1433=
XM_017029603.1:c.4251T>C	XP_016885092.1:p.Pro1417=
XM_017029604.2:c.4218T>C	XP_016885093.1:p.Pro1406=
XM_017029605.1:c.4215T>C	XP_016885094.1:p.Pro1405=
XM_017029606.2:c.4188T>C	XP_016885095.1:p.Pro1396=
XM_017029607.2:c.4185T>C	XP_016885096.1:p.Pro1395=
XM_017029608.2:c.4137T>C	XP_016885097.1:p.Pro1379=
XM_017029609.1:c.4101T>C	XP_016885098.1:p.Pro1367=
XM_017029610.1:c.4098T>C	XP_016885099.1:p.Pro1366=
XM_017029611.1:c.4053T>C	XP_016885100.1:p.Pro1351=
XR_001755700.2:n.4644T>C
NM_138270.4:c.4305T>C	NP_612114.2:p.Pro1435=
NM_000489.6:c.4419T>C MANE Select	NP_000480.3:p.Pro1473=
NM_138270.5:c.4305T>C	NP_612114.2:p.Pro1435=