Canonical Allele Identifier: CA413703668
Gene: ATRX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77508400G>C , CM000685.2:g.77508400G>C GRCh38
NC_000023.10:g.76763878G>C , CM000685.1:g.76763878G>C GRCh37
NC_000023.9:g.76650534G>C NCBI36
NG_008838.2:g.282822C>G
NG_008838.3:g.282870C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.7430C>G MANE Select ENSP00000362441.4:p.Pro2477Arg
ENST00000675732.1:c.2528C>G ENSP00000502598.1:p.Pro843Arg
ENST00000373344.9:c.7430C>G ENSP00000362441.4:p.Pro2477Arg
ENST00000395603.7:c.7316C>G ENSP00000378967.3:p.Pro2439Arg
ENST00000480283.5:c.*7058C>G ENSP00000480196.1:n.*7058C>G
ENST00000623706.3:n.5750C>G
NM_000489.4:c.7430C>G NP_000480.3:p.Pro2477Arg
NM_138270.3:c.7316C>G NP_612114.2:p.Pro2439Arg
XM_005262153.3:c.7427C>G XP_005262210.2:p.Pro2476Arg
XM_005262154.3:c.7343C>G XP_005262211.2:p.Pro2448Arg
XM_005262155.3:c.7313C>G XP_005262212.2:p.Pro2438Arg
XM_005262156.3:c.7265C>G XP_005262213.2:p.Pro2422Arg
XM_005262157.3:c.7226C>G XP_005262214.2:p.Pro2409Arg
XM_006724666.2:c.7313C>G XP_006724729.1:p.Pro2438Arg
XM_006724667.2:c.7151C>G XP_006724730.1:p.Pro2384Arg
XR_938400.1:n.9022C>G
NM_000489.5:c.7430C>G NP_000480.3:p.Pro2477Arg
XM_005262153.5:c.7427C>G XP_005262210.2:p.Pro2476Arg
XM_005262154.5:c.7343C>G XP_005262211.2:p.Pro2448Arg
XM_005262155.4:c.7313C>G XP_005262212.2:p.Pro2438Arg
XM_005262156.4:c.7265C>G XP_005262213.2:p.Pro2422Arg
XM_005262157.5:c.7226C>G XP_005262214.2:p.Pro2409Arg
XM_006724666.4:c.7313C>G XP_006724729.1:p.Pro2438Arg
XM_006724667.3:c.7151C>G XP_006724730.1:p.Pro2384Arg
XM_017029601.2:c.7340C>G XP_016885090.1:p.Pro2447Arg
XM_017029602.1:c.7310C>G XP_016885091.1:p.Pro2437Arg
XM_017029603.1:c.7262C>G XP_016885092.1:p.Pro2421Arg
XM_017029604.2:c.7229C>G XP_016885093.1:p.Pro2410Arg
XM_017029605.1:c.7226C>G XP_016885094.1:p.Pro2409Arg
XM_017029606.2:c.7199C>G XP_016885095.1:p.Pro2400Arg
XM_017029607.2:c.7196C>G XP_016885096.1:p.Pro2399Arg
XM_017029608.2:c.7148C>G XP_016885097.1:p.Pro2383Arg
XM_017029609.1:c.7112C>G XP_016885098.1:p.Pro2371Arg
XM_017029610.1:c.7109C>G XP_016885099.1:p.Pro2370Arg
XM_017029611.1:c.7064C>G XP_016885100.1:p.Pro2355Arg
XR_001755700.2:n.7729C>G
NM_138270.4:c.7316C>G NP_612114.2:p.Pro2439Arg
NM_000489.6:c.7430C>G MANE Select NP_000480.3:p.Pro2477Arg
NM_138270.5:c.7316C>G NP_612114.2:p.Pro2439Arg