Canonical Allele Identifier: CA10458336
Community Standard Title: NM_000489.6(ATRX):c.253A>G (p.Ile85Val)
Gene: ATRX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77696694T>C , CM000685.2:g.77696694T>C GRCh38
NC_000023.10:g.76952182T>C , CM000685.1:g.76952182T>C GRCh37
NC_000023.9:g.76838838T>C NCBI36
NG_008838.2:g.94528A>G
NG_008838.3:g.94576A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000489.6:c.253A>G MANE Select NP_000480.3:p.Ile85Val
ENST00000373344.11:c.253A>G MANE Select ENSP00000362441.4:p.Ile85Val
NM_000489.4:c.253A>G NP_000480.3:p.Ile85Val
NM_000489.5:c.253A>G NP_000480.3:p.Ile85Val
NM_138270.3:c.253A>G NP_612114.2:p.Ile85Val
NM_138270.4:c.253A>G NP_612114.2:p.Ile85Val
NM_138270.5:c.253A>G NP_612114.2:p.Ile85Val
ENST00000373344.9:c.253A>G ENSP00000362441.4:p.Ile85Val
ENST00000395603.7:c.253A>G ENSP00000378967.3:p.Ile85Val
ENST00000480283.5:c.253A>G ENSP00000480196.1:p.Ile85Val
ENST00000622960.1:c.136A>G ENSP00000485587.1:p.Ile46Val
ENST00000623321.3:c.88A>G ENSP00000485127.1:p.Ile30Val
ENST00000624032.3:c.253A>G ENSP00000485253.1:p.Ile85Val
ENST00000624166.3:c.253A>G ENSP00000485103.1:p.Ile85Val
ENST00000624668.3:c.88A>G ENSP00000485100.1:p.Ile30Val
ENST00000625063.3:c.71A>G
XM_005262153.3:c.253A>G XP_005262210.2:p.Ile85Val
XM_005262153.5:c.253A>G XP_005262210.2:p.Ile85Val
XM_005262154.3:c.253A>G XP_005262211.2:p.Ile85Val
XM_005262154.5:c.253A>G XP_005262211.2:p.Ile85Val
XM_005262155.3:c.136A>G XP_005262212.2:p.Ile46Val
XM_005262155.4:c.136A>G XP_005262212.2:p.Ile46Val
XM_005262156.3:c.88A>G XP_005262213.2:p.Ile30Val
XM_005262156.4:c.88A>G XP_005262213.2:p.Ile30Val
XM_005262157.3:c.253A>G XP_005262214.2:p.Ile85Val
XM_005262157.5:c.253A>G XP_005262214.2:p.Ile85Val
XM_006724666.2:c.253A>G XP_006724729.1:p.Ile85Val
XM_006724666.4:c.253A>G XP_006724729.1:p.Ile85Val
XM_006724667.2:c.88A>G XP_006724730.1:p.Ile30Val
XM_006724667.3:c.88A>G XP_006724730.1:p.Ile30Val
XM_006724668.2:c.253A>G XP_006724731.1:p.Ile85Val
XM_006724668.3:c.253A>G XP_006724731.1:p.Ile85Val
XM_017029601.2:c.253A>G XP_016885090.1:p.Ile85Val
XM_017029602.1:c.136A>G XP_016885091.1:p.Ile46Val
XM_017029603.1:c.88A>G XP_016885092.1:p.Ile30Val
XM_017029604.2:c.253A>G XP_016885093.1:p.Ile85Val
XM_017029605.1:c.136A>G XP_016885094.1:p.Ile46Val
XM_017029606.2:c.136A>G XP_016885095.1:p.Ile46Val
XM_017029607.2:c.136A>G XP_016885096.1:p.Ile46Val
XM_017029608.2:c.88A>G XP_016885097.1:p.Ile30Val
XM_017029609.1:c.136A>G XP_016885098.1:p.Ile46Val
XM_017029610.1:c.136A>G XP_016885099.1:p.Ile46Val
XM_017029611.1:c.88A>G XP_016885100.1:p.Ile30Val
XR_001755700.2:n.478A>G
XR_938400.1:n.521A>G