Canonical Allele Identifier: CA413704592
Gene: ATRX HGNC NCBI

Linked Data

dbSNP Id: rs1170674622

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77508525G>C , CM000685.2:g.77508525G>C GRCh38
NC_000023.10:g.76764003G>C , CM000685.1:g.76764003G>C GRCh37
NC_000023.9:g.76650659G>C NCBI36
NG_008838.2:g.282697C>G
NG_008838.3:g.282745C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.7305C>G MANE Select ENSP00000362441.4:p.His2435Gln
ENST00000675732.1:c.2403C>G ENSP00000502598.1:p.His801Gln
ENST00000373344.9:c.7305C>G ENSP00000362441.4:p.His2435Gln
ENST00000395603.7:c.7191C>G ENSP00000378967.3:p.His2397Gln
ENST00000480283.5:c.*6933C>G ENSP00000480196.1:n.*6933C>G
ENST00000623706.3:n.5625C>G
ENST00000624766.1:n.536C>G
NM_000489.4:c.7305C>G NP_000480.3:p.His2435Gln
NM_138270.3:c.7191C>G NP_612114.2:p.His2397Gln
XM_005262153.3:c.7302C>G XP_005262210.2:p.His2434Gln
XM_005262154.3:c.7218C>G XP_005262211.2:p.His2406Gln
XM_005262155.3:c.7188C>G XP_005262212.2:p.His2396Gln
XM_005262156.3:c.7140C>G XP_005262213.2:p.His2380Gln
XM_005262157.3:c.7101C>G XP_005262214.2:p.His2367Gln
XM_006724666.2:c.7188C>G XP_006724729.1:p.His2396Gln
XM_006724667.2:c.7026C>G XP_006724730.1:p.His2342Gln
XR_938400.1:n.8897C>G
NM_000489.5:c.7305C>G NP_000480.3:p.His2435Gln
XM_005262153.5:c.7302C>G XP_005262210.2:p.His2434Gln
XM_005262154.5:c.7218C>G XP_005262211.2:p.His2406Gln
XM_005262155.4:c.7188C>G XP_005262212.2:p.His2396Gln
XM_005262156.4:c.7140C>G XP_005262213.2:p.His2380Gln
XM_005262157.5:c.7101C>G XP_005262214.2:p.His2367Gln
XM_006724666.4:c.7188C>G XP_006724729.1:p.His2396Gln
XM_006724667.3:c.7026C>G XP_006724730.1:p.His2342Gln
XM_017029601.2:c.7215C>G XP_016885090.1:p.His2405Gln
XM_017029602.1:c.7185C>G XP_016885091.1:p.His2395Gln
XM_017029603.1:c.7137C>G XP_016885092.1:p.His2379Gln
XM_017029604.2:c.7104C>G XP_016885093.1:p.His2368Gln
XM_017029605.1:c.7101C>G XP_016885094.1:p.His2367Gln
XM_017029606.2:c.7074C>G XP_016885095.1:p.His2358Gln
XM_017029607.2:c.7071C>G XP_016885096.1:p.His2357Gln
XM_017029608.2:c.7023C>G XP_016885097.1:p.His2341Gln
XM_017029609.1:c.6987C>G XP_016885098.1:p.His2329Gln
XM_017029610.1:c.6984C>G XP_016885099.1:p.His2328Gln
XM_017029611.1:c.6939C>G XP_016885100.1:p.His2313Gln
XR_001755700.2:n.7604C>G
NM_138270.4:c.7191C>G NP_612114.2:p.His2397Gln
NM_000489.6:c.7305C>G MANE Select NP_000480.3:p.His2435Gln
NM_138270.5:c.7191C>G NP_612114.2:p.His2397Gln