Canonical Allele Identifier: CA413704139
Gene: ATRX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77508469A>C , CM000685.2:g.77508469A>C GRCh38
NC_000023.10:g.76763947A>C , CM000685.1:g.76763947A>C GRCh37
NC_000023.9:g.76650603A>C NCBI36
NG_008838.2:g.282753T>G
NG_008838.3:g.282801T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.7361T>G MANE Select ENSP00000362441.4:p.Ile2454Ser
ENST00000675732.1:c.2459T>G ENSP00000502598.1:p.Ile820Ser
ENST00000373344.9:c.7361T>G ENSP00000362441.4:p.Ile2454Ser
ENST00000395603.7:c.7247T>G ENSP00000378967.3:p.Ile2416Ser
ENST00000480283.5:c.*6989T>G ENSP00000480196.1:n.*6989T>G
ENST00000623706.3:n.5681T>G
NM_000489.4:c.7361T>G NP_000480.3:p.Ile2454Ser
NM_138270.3:c.7247T>G NP_612114.2:p.Ile2416Ser
XM_005262153.3:c.7358T>G XP_005262210.2:p.Ile2453Ser
XM_005262154.3:c.7274T>G XP_005262211.2:p.Ile2425Ser
XM_005262155.3:c.7244T>G XP_005262212.2:p.Ile2415Ser
XM_005262156.3:c.7196T>G XP_005262213.2:p.Ile2399Ser
XM_005262157.3:c.7157T>G XP_005262214.2:p.Ile2386Ser
XM_006724666.2:c.7244T>G XP_006724729.1:p.Ile2415Ser
XM_006724667.2:c.7082T>G XP_006724730.1:p.Ile2361Ser
XR_938400.1:n.8953T>G
NM_000489.5:c.7361T>G NP_000480.3:p.Ile2454Ser
XM_005262153.5:c.7358T>G XP_005262210.2:p.Ile2453Ser
XM_005262154.5:c.7274T>G XP_005262211.2:p.Ile2425Ser
XM_005262155.4:c.7244T>G XP_005262212.2:p.Ile2415Ser
XM_005262156.4:c.7196T>G XP_005262213.2:p.Ile2399Ser
XM_005262157.5:c.7157T>G XP_005262214.2:p.Ile2386Ser
XM_006724666.4:c.7244T>G XP_006724729.1:p.Ile2415Ser
XM_006724667.3:c.7082T>G XP_006724730.1:p.Ile2361Ser
XM_017029601.2:c.7271T>G XP_016885090.1:p.Ile2424Ser
XM_017029602.1:c.7241T>G XP_016885091.1:p.Ile2414Ser
XM_017029603.1:c.7193T>G XP_016885092.1:p.Ile2398Ser
XM_017029604.2:c.7160T>G XP_016885093.1:p.Ile2387Ser
XM_017029605.1:c.7157T>G XP_016885094.1:p.Ile2386Ser
XM_017029606.2:c.7130T>G XP_016885095.1:p.Ile2377Ser
XM_017029607.2:c.7127T>G XP_016885096.1:p.Ile2376Ser
XM_017029608.2:c.7079T>G XP_016885097.1:p.Ile2360Ser
XM_017029609.1:c.7043T>G XP_016885098.1:p.Ile2348Ser
XM_017029610.1:c.7040T>G XP_016885099.1:p.Ile2347Ser
XM_017029611.1:c.6995T>G XP_016885100.1:p.Ile2332Ser
XR_001755700.2:n.7660T>G
NM_138270.4:c.7247T>G NP_612114.2:p.Ile2416Ser
NM_000489.6:c.7361T>G MANE Select NP_000480.3:p.Ile2454Ser
NM_138270.5:c.7247T>G NP_612114.2:p.Ile2416Ser