Canonical Allele Identifier: CA413703975
Gene: ATRX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77508442A>C , CM000685.2:g.77508442A>C GRCh38
NC_000023.10:g.76763920A>C , CM000685.1:g.76763920A>C GRCh37
NC_000023.9:g.76650576A>C NCBI36
NG_008838.2:g.282780T>G
NG_008838.3:g.282828T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.7388T>G MANE Select ENSP00000362441.4:p.Val2463Gly
ENST00000675732.1:c.2486T>G ENSP00000502598.1:p.Val829Gly
ENST00000373344.9:c.7388T>G ENSP00000362441.4:p.Val2463Gly
ENST00000395603.7:c.7274T>G ENSP00000378967.3:p.Val2425Gly
ENST00000480283.5:c.*7016T>G ENSP00000480196.1:n.*7016T>G
ENST00000623706.3:n.5708T>G
NM_000489.4:c.7388T>G NP_000480.3:p.Val2463Gly
NM_138270.3:c.7274T>G NP_612114.2:p.Val2425Gly
XM_005262153.3:c.7385T>G XP_005262210.2:p.Val2462Gly
XM_005262154.3:c.7301T>G XP_005262211.2:p.Val2434Gly
XM_005262155.3:c.7271T>G XP_005262212.2:p.Val2424Gly
XM_005262156.3:c.7223T>G XP_005262213.2:p.Val2408Gly
XM_005262157.3:c.7184T>G XP_005262214.2:p.Val2395Gly
XM_006724666.2:c.7271T>G XP_006724729.1:p.Val2424Gly
XM_006724667.2:c.7109T>G XP_006724730.1:p.Val2370Gly
XR_938400.1:n.8980T>G
NM_000489.5:c.7388T>G NP_000480.3:p.Val2463Gly
XM_005262153.5:c.7385T>G XP_005262210.2:p.Val2462Gly
XM_005262154.5:c.7301T>G XP_005262211.2:p.Val2434Gly
XM_005262155.4:c.7271T>G XP_005262212.2:p.Val2424Gly
XM_005262156.4:c.7223T>G XP_005262213.2:p.Val2408Gly
XM_005262157.5:c.7184T>G XP_005262214.2:p.Val2395Gly
XM_006724666.4:c.7271T>G XP_006724729.1:p.Val2424Gly
XM_006724667.3:c.7109T>G XP_006724730.1:p.Val2370Gly
XM_017029601.2:c.7298T>G XP_016885090.1:p.Val2433Gly
XM_017029602.1:c.7268T>G XP_016885091.1:p.Val2423Gly
XM_017029603.1:c.7220T>G XP_016885092.1:p.Val2407Gly
XM_017029604.2:c.7187T>G XP_016885093.1:p.Val2396Gly
XM_017029605.1:c.7184T>G XP_016885094.1:p.Val2395Gly
XM_017029606.2:c.7157T>G XP_016885095.1:p.Val2386Gly
XM_017029607.2:c.7154T>G XP_016885096.1:p.Val2385Gly
XM_017029608.2:c.7106T>G XP_016885097.1:p.Val2369Gly
XM_017029609.1:c.7070T>G XP_016885098.1:p.Val2357Gly
XM_017029610.1:c.7067T>G XP_016885099.1:p.Val2356Gly
XM_017029611.1:c.7022T>G XP_016885100.1:p.Val2341Gly
XR_001755700.2:n.7687T>G
NM_138270.4:c.7274T>G NP_612114.2:p.Val2425Gly
NM_000489.6:c.7388T>G MANE Select NP_000480.3:p.Val2463Gly
NM_138270.5:c.7274T>G NP_612114.2:p.Val2425Gly