Canonical Allele Identifier: CA10457941
Community Standard Title: NM_000489.6(ATRX):c.3538A>G (p.Ile1180Val)
Gene: ATRX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77681718T>C , CM000685.2:g.77681718T>C GRCh38
NC_000023.10:g.76937210T>C , CM000685.1:g.76937210T>C GRCh37
NC_000023.9:g.76823866T>C NCBI36
NG_008838.2:g.109504A>G
NG_008838.3:g.109552A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000489.6:c.3538A>G MANE Select NP_000480.3:p.Ile1180Val
ENST00000373344.11:c.3538A>G MANE Select ENSP00000362441.4:p.Ile1180Val
NM_000489.4:c.3538A>G NP_000480.3:p.Ile1180Val
NM_000489.5:c.3538A>G NP_000480.3:p.Ile1180Val
NM_138270.3:c.3424A>G NP_612114.2:p.Ile1142Val
NM_138270.4:c.3424A>G NP_612114.2:p.Ile1142Val
NM_138270.5:c.3424A>G NP_612114.2:p.Ile1142Val
ENST00000373344.9:c.3538A>G ENSP00000362441.4:p.Ile1180Val
ENST00000395603.7:c.3424A>G ENSP00000378967.3:p.Ile1142Val
ENST00000480283.5:c.*3166A>G ENSP00000480196.1:n.*3166A>G
ENST00000493470.2:c.424A>G ENSP00000485408.1:p.Ile142Val
ENST00000624166.3:c.3334A>G ENSP00000485103.1:p.Ile1112Val
XM_005262153.3:c.3535A>G XP_005262210.2:p.Ile1179Val
XM_005262153.5:c.3535A>G XP_005262210.2:p.Ile1179Val
XM_005262154.3:c.3451A>G XP_005262211.2:p.Ile1151Val
XM_005262154.5:c.3451A>G XP_005262211.2:p.Ile1151Val
XM_005262155.3:c.3421A>G XP_005262212.2:p.Ile1141Val
XM_005262155.4:c.3421A>G XP_005262212.2:p.Ile1141Val
XM_005262156.3:c.3373A>G XP_005262213.2:p.Ile1125Val
XM_005262156.4:c.3373A>G XP_005262213.2:p.Ile1125Val
XM_005262157.3:c.3334A>G XP_005262214.2:p.Ile1112Val
XM_005262157.5:c.3334A>G XP_005262214.2:p.Ile1112Val
XM_006724666.2:c.3421A>G XP_006724729.1:p.Ile1141Val
XM_006724666.4:c.3421A>G XP_006724729.1:p.Ile1141Val
XM_006724667.2:c.3259A>G XP_006724730.1:p.Ile1087Val
XM_006724667.3:c.3259A>G XP_006724730.1:p.Ile1087Val
XM_006724668.2:c.3538A>G XP_006724731.1:p.Ile1180Val
XM_006724668.3:c.3538A>G XP_006724731.1:p.Ile1180Val
XM_017029601.2:c.3448A>G XP_016885090.1:p.Ile1150Val
XM_017029602.1:c.3418A>G XP_016885091.1:p.Ile1140Val
XM_017029603.1:c.3370A>G XP_016885092.1:p.Ile1124Val
XM_017029604.2:c.3337A>G XP_016885093.1:p.Ile1113Val
XM_017029605.1:c.3334A>G XP_016885094.1:p.Ile1112Val
XM_017029606.2:c.3307A>G XP_016885095.1:p.Ile1103Val
XM_017029607.2:c.3304A>G XP_016885096.1:p.Ile1102Val
XM_017029608.2:c.3256A>G XP_016885097.1:p.Ile1086Val
XM_017029609.1:c.3220A>G XP_016885098.1:p.Ile1074Val
XM_017029610.1:c.3217A>G XP_016885099.1:p.Ile1073Val
XM_017029611.1:c.3172A>G XP_016885100.1:p.Ile1058Val
XR_001755700.2:n.3763A>G
XR_938400.1:n.3806A>G