Canonical Allele Identifier: CA517471493

Gene: ATRX

Linked Data

• ClinVar Variation Id: 2796346
• ClinVar RCV Id: RCV003624771
• MyVariant Identifiers: chrX:g.76907760A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652270A>G , CM000685.2:g.77652270A>G	GRCh38
NC_000023.10:g.76907760A>G , CM000685.1:g.76907760A>G	GRCh37
NC_000023.9:g.76794416A>G	NCBI36
NG_008838.2:g.138952T>C
NG_008838.3:g.139000T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4401T>C MANE Select	ENSP00000362441.4:p.Asn1467=
ENST00000373344.9:c.4401T>C	ENSP00000362441.4:p.Asn1467=
ENST00000395603.7:c.4287T>C	ENSP00000378967.3:p.Asn1429=
ENST00000480283.5:c.*4029T>C	ENSP00000480196.1:n.*4029T>C
ENST00000623242.3:c.7T>C
NM_000489.4:c.4401T>C	NP_000480.3:p.Asn1467=
NM_138270.3:c.4287T>C	NP_612114.2:p.Asn1429=
XM_005262153.3:c.4398T>C	XP_005262210.2:p.Asn1466=
XM_005262154.3:c.4314T>C	XP_005262211.2:p.Asn1438=
XM_005262155.3:c.4284T>C	XP_005262212.2:p.Asn1428=
XM_005262156.3:c.4236T>C	XP_005262213.2:p.Asn1412=
XM_005262157.3:c.4197T>C	XP_005262214.2:p.Asn1399=
XM_006724666.2:c.4284T>C	XP_006724729.1:p.Asn1428=
XM_006724667.2:c.4122T>C	XP_006724730.1:p.Asn1374=
XM_006724668.2:c.4401T>C	XP_006724731.1:p.Asn1467=
XR_938400.1:n.4669T>C
NM_000489.5:c.4401T>C	NP_000480.3:p.Asn1467=
XM_005262153.5:c.4398T>C	XP_005262210.2:p.Asn1466=
XM_005262154.5:c.4314T>C	XP_005262211.2:p.Asn1438=
XM_005262155.4:c.4284T>C	XP_005262212.2:p.Asn1428=
XM_005262156.4:c.4236T>C	XP_005262213.2:p.Asn1412=
XM_005262157.5:c.4197T>C	XP_005262214.2:p.Asn1399=
XM_006724666.4:c.4284T>C	XP_006724729.1:p.Asn1428=
XM_006724667.3:c.4122T>C	XP_006724730.1:p.Asn1374=
XM_006724668.3:c.4401T>C	XP_006724731.1:p.Asn1467=
XM_017029601.2:c.4311T>C	XP_016885090.1:p.Asn1437=
XM_017029602.1:c.4281T>C	XP_016885091.1:p.Asn1427=
XM_017029603.1:c.4233T>C	XP_016885092.1:p.Asn1411=
XM_017029604.2:c.4200T>C	XP_016885093.1:p.Asn1400=
XM_017029605.1:c.4197T>C	XP_016885094.1:p.Asn1399=
XM_017029606.2:c.4170T>C	XP_016885095.1:p.Asn1390=
XM_017029607.2:c.4167T>C	XP_016885096.1:p.Asn1389=
XM_017029608.2:c.4119T>C	XP_016885097.1:p.Asn1373=
XM_017029609.1:c.4083T>C	XP_016885098.1:p.Asn1361=
XM_017029610.1:c.4080T>C	XP_016885099.1:p.Asn1360=
XM_017029611.1:c.4035T>C	XP_016885100.1:p.Asn1345=
XR_001755700.2:n.4626T>C
NM_138270.4:c.4287T>C	NP_612114.2:p.Asn1429=
NM_000489.6:c.4401T>C MANE Select	NP_000480.3:p.Asn1467=
NM_138270.5:c.4287T>C	NP_612114.2:p.Asn1429=