Canonical Allele Identifier: CA413704307
Gene: ATRX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77508491T>G , CM000685.2:g.77508491T>G GRCh38
NC_000023.10:g.76763969T>G , CM000685.1:g.76763969T>G GRCh37
NC_000023.9:g.76650625T>G NCBI36
NG_008838.2:g.282731A>C
NG_008838.3:g.282779A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.7339A>C MANE Select ENSP00000362441.4:p.Asn2447His
ENST00000675732.1:c.2437A>C ENSP00000502598.1:p.Asn813His
ENST00000373344.9:c.7339A>C ENSP00000362441.4:p.Asn2447His
ENST00000395603.7:c.7225A>C ENSP00000378967.3:p.Asn2409His
ENST00000480283.5:c.*6967A>C ENSP00000480196.1:n.*6967A>C
ENST00000623706.3:n.5659A>C
ENST00000624766.1:n.570A>C
NM_000489.4:c.7339A>C NP_000480.3:p.Asn2447His
NM_138270.3:c.7225A>C NP_612114.2:p.Asn2409His
XM_005262153.3:c.7336A>C XP_005262210.2:p.Asn2446His
XM_005262154.3:c.7252A>C XP_005262211.2:p.Asn2418His
XM_005262155.3:c.7222A>C XP_005262212.2:p.Asn2408His
XM_005262156.3:c.7174A>C XP_005262213.2:p.Asn2392His
XM_005262157.3:c.7135A>C XP_005262214.2:p.Asn2379His
XM_006724666.2:c.7222A>C XP_006724729.1:p.Asn2408His
XM_006724667.2:c.7060A>C XP_006724730.1:p.Asn2354His
XR_938400.1:n.8931A>C
NM_000489.5:c.7339A>C NP_000480.3:p.Asn2447His
XM_005262153.5:c.7336A>C XP_005262210.2:p.Asn2446His
XM_005262154.5:c.7252A>C XP_005262211.2:p.Asn2418His
XM_005262155.4:c.7222A>C XP_005262212.2:p.Asn2408His
XM_005262156.4:c.7174A>C XP_005262213.2:p.Asn2392His
XM_005262157.5:c.7135A>C XP_005262214.2:p.Asn2379His
XM_006724666.4:c.7222A>C XP_006724729.1:p.Asn2408His
XM_006724667.3:c.7060A>C XP_006724730.1:p.Asn2354His
XM_017029601.2:c.7249A>C XP_016885090.1:p.Asn2417His
XM_017029602.1:c.7219A>C XP_016885091.1:p.Asn2407His
XM_017029603.1:c.7171A>C XP_016885092.1:p.Asn2391His
XM_017029604.2:c.7138A>C XP_016885093.1:p.Asn2380His
XM_017029605.1:c.7135A>C XP_016885094.1:p.Asn2379His
XM_017029606.2:c.7108A>C XP_016885095.1:p.Asn2370His
XM_017029607.2:c.7105A>C XP_016885096.1:p.Asn2369His
XM_017029608.2:c.7057A>C XP_016885097.1:p.Asn2353His
XM_017029609.1:c.7021A>C XP_016885098.1:p.Asn2341His
XM_017029610.1:c.7018A>C XP_016885099.1:p.Asn2340His
XM_017029611.1:c.6973A>C XP_016885100.1:p.Asn2325His
XR_001755700.2:n.7638A>C
NM_138270.4:c.7225A>C NP_612114.2:p.Asn2409His
NM_000489.6:c.7339A>C MANE Select NP_000480.3:p.Asn2447His
NM_138270.5:c.7225A>C NP_612114.2:p.Asn2409His