Canonical Allele Identifier: CA413701065
Gene: ATRX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77574297C>A , CM000685.2:g.77574297C>A GRCh38
NC_000023.10:g.76829762C>A , CM000685.1:g.76829762C>A GRCh37
NC_000023.9:g.76716418C>A NCBI36
NG_008838.2:g.216925G>T
NG_008838.3:g.216973G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.6279G>T MANE Select ENSP00000362441.4:p.Gln2093His
ENST00000675732.1:c.1377G>T ENSP00000502598.1:p.Gln459His
ENST00000373344.9:c.6279G>T ENSP00000362441.4:p.Gln2093His
ENST00000395603.7:c.6165G>T ENSP00000378967.3:p.Gln2055His
ENST00000480283.5:c.*5907G>T ENSP00000480196.1:n.*5907G>T
ENST00000623316.1:c.763G>T
ENST00000623706.3:n.3349G>T
NM_000489.4:c.6279G>T NP_000480.3:p.Gln2093His
NM_138270.3:c.6165G>T NP_612114.2:p.Gln2055His
XM_005262153.3:c.6276G>T XP_005262210.2:p.Gln2092His
XM_005262154.3:c.6192G>T XP_005262211.2:p.Gln2064His
XM_005262155.3:c.6162G>T XP_005262212.2:p.Gln2054His
XM_005262156.3:c.6114G>T XP_005262213.2:p.Gln2038His
XM_005262157.3:c.6075G>T XP_005262214.2:p.Gln2025His
XM_006724666.2:c.6162G>T XP_006724729.1:p.Gln2054His
XM_006724667.2:c.6000G>T XP_006724730.1:p.Gln2000His
XR_938400.1:n.6621G>T
NM_000489.5:c.6279G>T NP_000480.3:p.Gln2093His
XM_005262153.5:c.6276G>T XP_005262210.2:p.Gln2092His
XM_005262154.5:c.6192G>T XP_005262211.2:p.Gln2064His
XM_005262155.4:c.6162G>T XP_005262212.2:p.Gln2054His
XM_005262156.4:c.6114G>T XP_005262213.2:p.Gln2038His
XM_005262157.5:c.6075G>T XP_005262214.2:p.Gln2025His
XM_006724666.4:c.6162G>T XP_006724729.1:p.Gln2054His
XM_006724667.3:c.6000G>T XP_006724730.1:p.Gln2000His
XM_017029601.2:c.6189G>T XP_016885090.1:p.Gln2063His
XM_017029602.1:c.6159G>T XP_016885091.1:p.Gln2053His
XM_017029603.1:c.6111G>T XP_016885092.1:p.Gln2037His
XM_017029604.2:c.6078G>T XP_016885093.1:p.Gln2026His
XM_017029605.1:c.6075G>T XP_016885094.1:p.Gln2025His
XM_017029606.2:c.6048G>T XP_016885095.1:p.Gln2016His
XM_017029607.2:c.6045G>T XP_016885096.1:p.Gln2015His
XM_017029608.2:c.5997G>T XP_016885097.1:p.Gln1999His
XM_017029609.1:c.5961G>T XP_016885098.1:p.Gln1987His
XM_017029610.1:c.5958G>T XP_016885099.1:p.Gln1986His
XM_017029611.1:c.5913G>T XP_016885100.1:p.Gln1971His
XR_001755700.2:n.6578G>T
NM_138270.4:c.6165G>T NP_612114.2:p.Gln2055His
NM_000489.6:c.6279G>T MANE Select NP_000480.3:p.Gln2093His
NM_138270.5:c.6165G>T NP_612114.2:p.Gln2055His