Canonical Allele Identifier: CA413708508
Gene: ATRX HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.4401T>G MANE Select ENSP00000362441.4:p.Asn1467Lys
ENST00000373344.9:c.4401T>G ENSP00000362441.4:p.Asn1467Lys
ENST00000395603.7:c.4287T>G ENSP00000378967.3:p.Asn1429Lys
ENST00000480283.5:c.*4029T>G ENSP00000480196.1:n.*4029T>G
ENST00000623242.3:c.7T>G
NM_000489.4:c.4401T>G NP_000480.3:p.Asn1467Lys
NM_138270.3:c.4287T>G NP_612114.2:p.Asn1429Lys
XM_005262153.3:c.4398T>G XP_005262210.2:p.Asn1466Lys
XM_005262154.3:c.4314T>G XP_005262211.2:p.Asn1438Lys
XM_005262155.3:c.4284T>G XP_005262212.2:p.Asn1428Lys
XM_005262156.3:c.4236T>G XP_005262213.2:p.Asn1412Lys
XM_005262157.3:c.4197T>G XP_005262214.2:p.Asn1399Lys
XM_006724666.2:c.4284T>G XP_006724729.1:p.Asn1428Lys
XM_006724667.2:c.4122T>G XP_006724730.1:p.Asn1374Lys
XM_006724668.2:c.4401T>G XP_006724731.1:p.Asn1467Lys
XR_938400.1:n.4669T>G
NM_000489.5:c.4401T>G NP_000480.3:p.Asn1467Lys
XM_005262153.5:c.4398T>G XP_005262210.2:p.Asn1466Lys
XM_005262154.5:c.4314T>G XP_005262211.2:p.Asn1438Lys
XM_005262155.4:c.4284T>G XP_005262212.2:p.Asn1428Lys
XM_005262156.4:c.4236T>G XP_005262213.2:p.Asn1412Lys
XM_005262157.5:c.4197T>G XP_005262214.2:p.Asn1399Lys
XM_006724666.4:c.4284T>G XP_006724729.1:p.Asn1428Lys
XM_006724667.3:c.4122T>G XP_006724730.1:p.Asn1374Lys
XM_006724668.3:c.4401T>G XP_006724731.1:p.Asn1467Lys
XM_017029601.2:c.4311T>G XP_016885090.1:p.Asn1437Lys
XM_017029602.1:c.4281T>G XP_016885091.1:p.Asn1427Lys
XM_017029603.1:c.4233T>G XP_016885092.1:p.Asn1411Lys
XM_017029604.2:c.4200T>G XP_016885093.1:p.Asn1400Lys
XM_017029605.1:c.4197T>G XP_016885094.1:p.Asn1399Lys
XM_017029606.2:c.4170T>G XP_016885095.1:p.Asn1390Lys
XM_017029607.2:c.4167T>G XP_016885096.1:p.Asn1389Lys
XM_017029608.2:c.4119T>G XP_016885097.1:p.Asn1373Lys
XM_017029609.1:c.4083T>G XP_016885098.1:p.Asn1361Lys
XM_017029610.1:c.4080T>G XP_016885099.1:p.Asn1360Lys
XM_017029611.1:c.4035T>G XP_016885100.1:p.Asn1345Lys
XR_001755700.2:n.4626T>G
NM_138270.4:c.4287T>G NP_612114.2:p.Asn1429Lys
NM_000489.6:c.4401T>G MANE Select NP_000480.3:p.Asn1467Lys
NM_138270.5:c.4287T>G NP_612114.2:p.Asn1429Lys