Canonical Allele Identifier: CA10457818

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77654171T>C , CM000685.2:g.77654171T>C	GRCh38
NC_000023.10:g.76909661T>C , CM000685.1:g.76909661T>C	GRCh37
NC_000023.9:g.76796317T>C	NCBI36
NG_008838.2:g.137051A>G
NG_008838.3:g.137099A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.4244A>G MANE Select	NP_000480.3:p.Asn1415Ser
ENST00000373344.11:c.4244A>G MANE Select	ENSP00000362441.4:p.Asn1415Ser
NM_000489.4:c.4244A>G	NP_000480.3:p.Asn1415Ser
NM_000489.5:c.4244A>G	NP_000480.3:p.Asn1415Ser
NM_138270.3:c.4130A>G	NP_612114.2:p.Asn1377Ser
NM_138270.4:c.4130A>G	NP_612114.2:p.Asn1377Ser
NM_138270.5:c.4130A>G	NP_612114.2:p.Asn1377Ser
ENST00000373344.9:c.4244A>G	ENSP00000362441.4:p.Asn1415Ser
ENST00000395603.7:c.4130A>G	ENSP00000378967.3:p.Asn1377Ser
ENST00000480283.5:c.*3872A>G	ENSP00000480196.1:n.*3872A>G
ENST00000624166.3:c.4040A>G	ENSP00000485103.1:p.Asn1347Ser
XM_005262153.3:c.4241A>G	XP_005262210.2:p.Asn1414Ser
XM_005262153.5:c.4241A>G	XP_005262210.2:p.Asn1414Ser
XM_005262154.3:c.4157A>G	XP_005262211.2:p.Asn1386Ser
XM_005262154.5:c.4157A>G	XP_005262211.2:p.Asn1386Ser
XM_005262155.3:c.4127A>G	XP_005262212.2:p.Asn1376Ser
XM_005262155.4:c.4127A>G	XP_005262212.2:p.Asn1376Ser
XM_005262156.3:c.4079A>G	XP_005262213.2:p.Asn1360Ser
XM_005262156.4:c.4079A>G	XP_005262213.2:p.Asn1360Ser
XM_005262157.3:c.4040A>G	XP_005262214.2:p.Asn1347Ser
XM_005262157.5:c.4040A>G	XP_005262214.2:p.Asn1347Ser
XM_006724666.2:c.4127A>G	XP_006724729.1:p.Asn1376Ser
XM_006724666.4:c.4127A>G	XP_006724729.1:p.Asn1376Ser
XM_006724667.2:c.3965A>G	XP_006724730.1:p.Asn1322Ser
XM_006724667.3:c.3965A>G	XP_006724730.1:p.Asn1322Ser
XM_006724668.2:c.4244A>G	XP_006724731.1:p.Asn1415Ser
XM_006724668.3:c.4244A>G	XP_006724731.1:p.Asn1415Ser
XM_017029601.2:c.4154A>G	XP_016885090.1:p.Asn1385Ser
XM_017029602.1:c.4124A>G	XP_016885091.1:p.Asn1375Ser
XM_017029603.1:c.4076A>G	XP_016885092.1:p.Asn1359Ser
XM_017029604.2:c.4043A>G	XP_016885093.1:p.Asn1348Ser
XM_017029605.1:c.4040A>G	XP_016885094.1:p.Asn1347Ser
XM_017029606.2:c.4013A>G	XP_016885095.1:p.Asn1338Ser
XM_017029607.2:c.4010A>G	XP_016885096.1:p.Asn1337Ser
XM_017029608.2:c.3962A>G	XP_016885097.1:p.Asn1321Ser
XM_017029609.1:c.3926A>G	XP_016885098.1:p.Asn1309Ser
XM_017029610.1:c.3923A>G	XP_016885099.1:p.Asn1308Ser
XM_017029611.1:c.3878A>G	XP_016885100.1:p.Asn1293Ser
XR_001755700.2:n.4469A>G
XR_938400.1:n.4512A>G