Canonical Allele Identifier: CA10458014
Community Standard Title: NM_000489.6(ATRX):c.2953A>G (p.Ser985Gly)
Gene: ATRX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77682303T>C , CM000685.2:g.77682303T>C GRCh38
NC_000023.10:g.76937795T>C , CM000685.1:g.76937795T>C GRCh37
NC_000023.9:g.76824451T>C NCBI36
NG_008838.2:g.108919A>G
NG_008838.3:g.108967A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000489.6:c.2953A>G MANE Select NP_000480.3:p.Ser985Gly
ENST00000373344.11:c.2953A>G MANE Select ENSP00000362441.4:p.Ser985Gly
NM_000489.4:c.2953A>G NP_000480.3:p.Ser985Gly
NM_000489.5:c.2953A>G NP_000480.3:p.Ser985Gly
NM_138270.3:c.2839A>G NP_612114.2:p.Ser947Gly
NM_138270.4:c.2839A>G NP_612114.2:p.Ser947Gly
NM_138270.5:c.2839A>G NP_612114.2:p.Ser947Gly
ENST00000373344.9:c.2953A>G ENSP00000362441.4:p.Ser985Gly
ENST00000395603.7:c.2839A>G ENSP00000378967.3:p.Ser947Gly
ENST00000480283.5:c.*2581A>G ENSP00000480196.1:n.*2581A>G
ENST00000624166.3:c.2749A>G ENSP00000485103.1:p.Ser917Gly
XM_005262153.3:c.2950A>G XP_005262210.2:p.Ser984Gly
XM_005262153.5:c.2950A>G XP_005262210.2:p.Ser984Gly
XM_005262154.3:c.2866A>G XP_005262211.2:p.Ser956Gly
XM_005262154.5:c.2866A>G XP_005262211.2:p.Ser956Gly
XM_005262155.3:c.2836A>G XP_005262212.2:p.Ser946Gly
XM_005262155.4:c.2836A>G XP_005262212.2:p.Ser946Gly
XM_005262156.3:c.2788A>G XP_005262213.2:p.Ser930Gly
XM_005262156.4:c.2788A>G XP_005262213.2:p.Ser930Gly
XM_005262157.3:c.2749A>G XP_005262214.2:p.Ser917Gly
XM_005262157.5:c.2749A>G XP_005262214.2:p.Ser917Gly
XM_006724666.2:c.2836A>G XP_006724729.1:p.Ser946Gly
XM_006724666.4:c.2836A>G XP_006724729.1:p.Ser946Gly
XM_006724667.2:c.2674A>G XP_006724730.1:p.Ser892Gly
XM_006724667.3:c.2674A>G XP_006724730.1:p.Ser892Gly
XM_006724668.2:c.2953A>G XP_006724731.1:p.Ser985Gly
XM_006724668.3:c.2953A>G XP_006724731.1:p.Ser985Gly
XM_017029601.2:c.2863A>G XP_016885090.1:p.Ser955Gly
XM_017029602.1:c.2833A>G XP_016885091.1:p.Ser945Gly
XM_017029603.1:c.2785A>G XP_016885092.1:p.Ser929Gly
XM_017029604.2:c.2752A>G XP_016885093.1:p.Ser918Gly
XM_017029605.1:c.2749A>G XP_016885094.1:p.Ser917Gly
XM_017029606.2:c.2722A>G XP_016885095.1:p.Ser908Gly
XM_017029607.2:c.2719A>G XP_016885096.1:p.Ser907Gly
XM_017029608.2:c.2671A>G XP_016885097.1:p.Ser891Gly
XM_017029609.1:c.2635A>G XP_016885098.1:p.Ser879Gly
XM_017029610.1:c.2632A>G XP_016885099.1:p.Ser878Gly
XM_017029611.1:c.2587A>G XP_016885100.1:p.Ser863Gly
XR_001755700.2:n.3178A>G
XR_938400.1:n.3221A>G