Canonical Allele Identifier: CA10457842

Gene: ATRX

Linked Data

• ClinVar Variation Id: 284840
• ClinVar RCV Id: RCV000271653 ; RCV002055056 ; RCV002317813 ; RCV003224252 ; RCV001510472
• dbSNP Id: rs782553301
• ExAC: X:76912134 T / C
• gnomAD v2: X-76912134-T-C
• gnomAD v3: X-77656644-T-C
• gnomAD v4: X-77656644-T-C
• MyVariant Identifiers: chrX:g.76912134T>C (hg19) ; chrX:g.77656644T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77656644T>C , CM000685.2:g.77656644T>C	GRCh38
NC_000023.10:g.76912134T>C , CM000685.1:g.76912134T>C	GRCh37
NC_000023.9:g.76798790T>C	NCBI36
NG_008838.2:g.134578A>G
NG_008838.3:g.134626A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4130A>G MANE Select	ENSP00000362441.4:p.Glu1377Gly
ENST00000373344.9:c.4130A>G	ENSP00000362441.4:p.Glu1377Gly
ENST00000395603.7:c.4016A>G	ENSP00000378967.3:p.Glu1339Gly
ENST00000480283.5:c.*3758A>G	ENSP00000480196.1:n.*3758A>G
ENST00000624166.3:c.3926A>G	ENSP00000485103.1:p.Glu1309Gly
NM_000489.4:c.4130A>G	NP_000480.3:p.Glu1377Gly
NM_138270.3:c.4016A>G	NP_612114.2:p.Glu1339Gly
XM_005262153.3:c.4127A>G	XP_005262210.2:p.Glu1376Gly
XM_005262154.3:c.4043A>G	XP_005262211.2:p.Glu1348Gly
XM_005262155.3:c.4013A>G	XP_005262212.2:p.Glu1338Gly
XM_005262156.3:c.3965A>G	XP_005262213.2:p.Glu1322Gly
XM_005262157.3:c.3926A>G	XP_005262214.2:p.Glu1309Gly
XM_006724666.2:c.4013A>G	XP_006724729.1:p.Glu1338Gly
XM_006724667.2:c.3851A>G	XP_006724730.1:p.Glu1284Gly
XM_006724668.2:c.4130A>G	XP_006724731.1:p.Glu1377Gly
XR_938400.1:n.4398A>G
NM_000489.5:c.4130A>G	NP_000480.3:p.Glu1377Gly
XM_005262153.5:c.4127A>G	XP_005262210.2:p.Glu1376Gly
XM_005262154.5:c.4043A>G	XP_005262211.2:p.Glu1348Gly
XM_005262155.4:c.4013A>G	XP_005262212.2:p.Glu1338Gly
XM_005262156.4:c.3965A>G	XP_005262213.2:p.Glu1322Gly
XM_005262157.5:c.3926A>G	XP_005262214.2:p.Glu1309Gly
XM_006724666.4:c.4013A>G	XP_006724729.1:p.Glu1338Gly
XM_006724667.3:c.3851A>G	XP_006724730.1:p.Glu1284Gly
XM_006724668.3:c.4130A>G	XP_006724731.1:p.Glu1377Gly
XM_017029601.2:c.4040A>G	XP_016885090.1:p.Glu1347Gly
XM_017029602.1:c.4010A>G	XP_016885091.1:p.Glu1337Gly
XM_017029603.1:c.3962A>G	XP_016885092.1:p.Glu1321Gly
XM_017029604.2:c.3929A>G	XP_016885093.1:p.Glu1310Gly
XM_017029605.1:c.3926A>G	XP_016885094.1:p.Glu1309Gly
XM_017029606.2:c.3899A>G	XP_016885095.1:p.Glu1300Gly
XM_017029607.2:c.3896A>G	XP_016885096.1:p.Glu1299Gly
XM_017029608.2:c.3848A>G	XP_016885097.1:p.Glu1283Gly
XM_017029609.1:c.3812A>G	XP_016885098.1:p.Glu1271Gly
XM_017029610.1:c.3809A>G	XP_016885099.1:p.Glu1270Gly
XM_017029611.1:c.3764A>G	XP_016885100.1:p.Glu1255Gly
XR_001755700.2:n.4355A>G
NM_138270.4:c.4016A>G	NP_612114.2:p.Glu1339Gly
NM_000489.6:c.4130A>G MANE Select	NP_000480.3:p.Glu1377Gly
NM_138270.5:c.4016A>G	NP_612114.2:p.Glu1339Gly