Canonical Allele Identifier: CA256028
Gene: ATRX HGNC NCBI

Linked Data

ClinVar Variation Id: 11726
ClinVar RCV Id: RCV000012492
dbSNP Id: rs122445097

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77574326A>G , CM000685.2:g.77574326A>G GRCh38
NC_000023.10:g.76829791A>G , CM000685.1:g.76829791A>G GRCh37
NC_000023.9:g.76716447A>G NCBI36
NG_008838.2:g.216896T>C
NG_008838.3:g.216944T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.6250T>C MANE Select ENSP00000362441.4:p.Tyr2084His
ENST00000636152.1:n.85T>C
ENST00000675732.1:c.1348T>C ENSP00000502598.1:p.Tyr450His
ENST00000373344.9:c.6250T>C ENSP00000362441.4:p.Tyr2084His
ENST00000395603.7:c.6136T>C ENSP00000378967.3:p.Tyr2046His
ENST00000480283.5:c.*5878T>C ENSP00000480196.1:n.*5878T>C
ENST00000623316.1:c.734T>C
ENST00000623706.3:n.3320T>C
NM_000489.4:c.6250T>C NP_000480.3:p.Tyr2084His
NM_138270.3:c.6136T>C NP_612114.2:p.Tyr2046His
XM_005262153.3:c.6247T>C XP_005262210.2:p.Tyr2083His
XM_005262154.3:c.6163T>C XP_005262211.2:p.Tyr2055His
XM_005262155.3:c.6133T>C XP_005262212.2:p.Tyr2045His
XM_005262156.3:c.6085T>C XP_005262213.2:p.Tyr2029His
XM_005262157.3:c.6046T>C XP_005262214.2:p.Tyr2016His
XM_006724666.2:c.6133T>C XP_006724729.1:p.Tyr2045His
XM_006724667.2:c.5971T>C XP_006724730.1:p.Tyr1991His
XR_938400.1:n.6592T>C
NM_000489.5:c.6250T>C NP_000480.3:p.Tyr2084His
XM_005262153.5:c.6247T>C XP_005262210.2:p.Tyr2083His
XM_005262154.5:c.6163T>C XP_005262211.2:p.Tyr2055His
XM_005262155.4:c.6133T>C XP_005262212.2:p.Tyr2045His
XM_005262156.4:c.6085T>C XP_005262213.2:p.Tyr2029His
XM_005262157.5:c.6046T>C XP_005262214.2:p.Tyr2016His
XM_006724666.4:c.6133T>C XP_006724729.1:p.Tyr2045His
XM_006724667.3:c.5971T>C XP_006724730.1:p.Tyr1991His
XM_017029601.2:c.6160T>C XP_016885090.1:p.Tyr2054His
XM_017029602.1:c.6130T>C XP_016885091.1:p.Tyr2044His
XM_017029603.1:c.6082T>C XP_016885092.1:p.Tyr2028His
XM_017029604.2:c.6049T>C XP_016885093.1:p.Tyr2017His
XM_017029605.1:c.6046T>C XP_016885094.1:p.Tyr2016His
XM_017029606.2:c.6019T>C XP_016885095.1:p.Tyr2007His
XM_017029607.2:c.6016T>C XP_016885096.1:p.Tyr2006His
XM_017029608.2:c.5968T>C XP_016885097.1:p.Tyr1990His
XM_017029609.1:c.5932T>C XP_016885098.1:p.Tyr1978His
XM_017029610.1:c.5929T>C XP_016885099.1:p.Tyr1977His
XM_017029611.1:c.5884T>C XP_016885100.1:p.Tyr1962His
XR_001755700.2:n.6549T>C
NM_138270.4:c.6136T>C NP_612114.2:p.Tyr2046His
NM_000489.6:c.6250T>C MANE Select NP_000480.3:p.Tyr2084His
NM_138270.5:c.6136T>C NP_612114.2:p.Tyr2046His