Canonical Allele Identifier: CA10457920
Community Standard Title: NM_000489.6(ATRX):c.3701T>G (p.Val1234Gly)
Gene: ATRX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77681555A>C , CM000685.2:g.77681555A>C GRCh38
NC_000023.10:g.76937047A>C , CM000685.1:g.76937047A>C GRCh37
NC_000023.9:g.76823703A>C NCBI36
NG_008838.2:g.109667T>G
NG_008838.3:g.109715T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000489.6:c.3701T>G MANE Select NP_000480.3:p.Val1234Gly
ENST00000373344.11:c.3701T>G MANE Select ENSP00000362441.4:p.Val1234Gly
NM_000489.4:c.3701T>G NP_000480.3:p.Val1234Gly
NM_000489.5:c.3701T>G NP_000480.3:p.Val1234Gly
NM_138270.3:c.3587T>G NP_612114.2:p.Val1196Gly
NM_138270.4:c.3587T>G NP_612114.2:p.Val1196Gly
NM_138270.5:c.3587T>G NP_612114.2:p.Val1196Gly
ENST00000373344.9:c.3701T>G ENSP00000362441.4:p.Val1234Gly
ENST00000395603.7:c.3587T>G ENSP00000378967.3:p.Val1196Gly
ENST00000480283.5:c.*3329T>G ENSP00000480196.1:n.*3329T>G
ENST00000493470.2:c.587T>G ENSP00000485408.1:p.Val196Gly
ENST00000624166.3:c.3497T>G ENSP00000485103.1:p.Val1166Gly
XM_005262153.3:c.3698T>G XP_005262210.2:p.Val1233Gly
XM_005262153.5:c.3698T>G XP_005262210.2:p.Val1233Gly
XM_005262154.3:c.3614T>G XP_005262211.2:p.Val1205Gly
XM_005262154.5:c.3614T>G XP_005262211.2:p.Val1205Gly
XM_005262155.3:c.3584T>G XP_005262212.2:p.Val1195Gly
XM_005262155.4:c.3584T>G XP_005262212.2:p.Val1195Gly
XM_005262156.3:c.3536T>G XP_005262213.2:p.Val1179Gly
XM_005262156.4:c.3536T>G XP_005262213.2:p.Val1179Gly
XM_005262157.3:c.3497T>G XP_005262214.2:p.Val1166Gly
XM_005262157.5:c.3497T>G XP_005262214.2:p.Val1166Gly
XM_006724666.2:c.3584T>G XP_006724729.1:p.Val1195Gly
XM_006724666.4:c.3584T>G XP_006724729.1:p.Val1195Gly
XM_006724667.2:c.3422T>G XP_006724730.1:p.Val1141Gly
XM_006724667.3:c.3422T>G XP_006724730.1:p.Val1141Gly
XM_006724668.2:c.3701T>G XP_006724731.1:p.Val1234Gly
XM_006724668.3:c.3701T>G XP_006724731.1:p.Val1234Gly
XM_017029601.2:c.3611T>G XP_016885090.1:p.Val1204Gly
XM_017029602.1:c.3581T>G XP_016885091.1:p.Val1194Gly
XM_017029603.1:c.3533T>G XP_016885092.1:p.Val1178Gly
XM_017029604.2:c.3500T>G XP_016885093.1:p.Val1167Gly
XM_017029605.1:c.3497T>G XP_016885094.1:p.Val1166Gly
XM_017029606.2:c.3470T>G XP_016885095.1:p.Val1157Gly
XM_017029607.2:c.3467T>G XP_016885096.1:p.Val1156Gly
XM_017029608.2:c.3419T>G XP_016885097.1:p.Val1140Gly
XM_017029609.1:c.3383T>G XP_016885098.1:p.Val1128Gly
XM_017029610.1:c.3380T>G XP_016885099.1:p.Val1127Gly
XM_017029611.1:c.3335T>G XP_016885100.1:p.Val1112Gly
XR_001755700.2:n.3926T>G
XR_938400.1:n.3969T>G