Canonical Allele Identifier: CA413701232
Gene: ATRX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77574332C>T , CM000685.2:g.77574332C>T GRCh38
NC_000023.10:g.76829797C>T , CM000685.1:g.76829797C>T GRCh37
NC_000023.9:g.76716453C>T NCBI36
NG_008838.2:g.216890G>A
NG_008838.3:g.216938G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.6244G>A MANE Select ENSP00000362441.4:p.Asp2082Asn
ENST00000636152.1:n.79G>A
ENST00000675732.1:c.1342G>A ENSP00000502598.1:p.Asp448Asn
ENST00000373344.9:c.6244G>A ENSP00000362441.4:p.Asp2082Asn
ENST00000395603.7:c.6130G>A ENSP00000378967.3:p.Asp2044Asn
ENST00000480283.5:c.*5872G>A ENSP00000480196.1:n.*5872G>A
ENST00000623316.1:c.728G>A
ENST00000623706.3:n.3314G>A
NM_000489.4:c.6244G>A NP_000480.3:p.Asp2082Asn
NM_138270.3:c.6130G>A NP_612114.2:p.Asp2044Asn
XM_005262153.3:c.6241G>A XP_005262210.2:p.Asp2081Asn
XM_005262154.3:c.6157G>A XP_005262211.2:p.Asp2053Asn
XM_005262155.3:c.6127G>A XP_005262212.2:p.Asp2043Asn
XM_005262156.3:c.6079G>A XP_005262213.2:p.Asp2027Asn
XM_005262157.3:c.6040G>A XP_005262214.2:p.Asp2014Asn
XM_006724666.2:c.6127G>A XP_006724729.1:p.Asp2043Asn
XM_006724667.2:c.5965G>A XP_006724730.1:p.Asp1989Asn
XR_938400.1:n.6586G>A
NM_000489.5:c.6244G>A NP_000480.3:p.Asp2082Asn
XM_005262153.5:c.6241G>A XP_005262210.2:p.Asp2081Asn
XM_005262154.5:c.6157G>A XP_005262211.2:p.Asp2053Asn
XM_005262155.4:c.6127G>A XP_005262212.2:p.Asp2043Asn
XM_005262156.4:c.6079G>A XP_005262213.2:p.Asp2027Asn
XM_005262157.5:c.6040G>A XP_005262214.2:p.Asp2014Asn
XM_006724666.4:c.6127G>A XP_006724729.1:p.Asp2043Asn
XM_006724667.3:c.5965G>A XP_006724730.1:p.Asp1989Asn
XM_017029601.2:c.6154G>A XP_016885090.1:p.Asp2052Asn
XM_017029602.1:c.6124G>A XP_016885091.1:p.Asp2042Asn
XM_017029603.1:c.6076G>A XP_016885092.1:p.Asp2026Asn
XM_017029604.2:c.6043G>A XP_016885093.1:p.Asp2015Asn
XM_017029605.1:c.6040G>A XP_016885094.1:p.Asp2014Asn
XM_017029606.2:c.6013G>A XP_016885095.1:p.Asp2005Asn
XM_017029607.2:c.6010G>A XP_016885096.1:p.Asp2004Asn
XM_017029608.2:c.5962G>A XP_016885097.1:p.Asp1988Asn
XM_017029609.1:c.5926G>A XP_016885098.1:p.Asp1976Asn
XM_017029610.1:c.5923G>A XP_016885099.1:p.Asp1975Asn
XM_017029611.1:c.5878G>A XP_016885100.1:p.Asp1960Asn
XR_001755700.2:n.6543G>A
NM_138270.4:c.6130G>A NP_612114.2:p.Asp2044Asn
NM_000489.6:c.6244G>A MANE Select NP_000480.3:p.Asp2082Asn
NM_138270.5:c.6130G>A NP_612114.2:p.Asp2044Asn