Canonical Allele Identifier: CA10457960
Community Standard Title: NM_000489.6(ATRX):c.3437C>A (p.Thr1146Asn)
Gene: ATRX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77681819G>T , CM000685.2:g.77681819G>T GRCh38
NC_000023.10:g.76937311G>T , CM000685.1:g.76937311G>T GRCh37
NC_000023.9:g.76823967G>T NCBI36
NG_008838.2:g.109403C>A
NG_008838.3:g.109451C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000489.6:c.3437C>A MANE Select NP_000480.3:p.Thr1146Asn
ENST00000373344.11:c.3437C>A MANE Select ENSP00000362441.4:p.Thr1146Asn
NM_000489.4:c.3437C>A NP_000480.3:p.Thr1146Asn
NM_000489.5:c.3437C>A NP_000480.3:p.Thr1146Asn
NM_138270.3:c.3323C>A NP_612114.2:p.Thr1108Asn
NM_138270.4:c.3323C>A NP_612114.2:p.Thr1108Asn
NM_138270.5:c.3323C>A NP_612114.2:p.Thr1108Asn
ENST00000373344.9:c.3437C>A ENSP00000362441.4:p.Thr1146Asn
ENST00000395603.7:c.3323C>A ENSP00000378967.3:p.Thr1108Asn
ENST00000480283.5:c.*3065C>A ENSP00000480196.1:n.*3065C>A
ENST00000493470.2:c.323C>A ENSP00000485408.1:p.Thr108Asn
ENST00000624166.3:c.3233C>A ENSP00000485103.1:p.Thr1078Asn
XM_005262153.3:c.3434C>A XP_005262210.2:p.Thr1145Asn
XM_005262153.5:c.3434C>A XP_005262210.2:p.Thr1145Asn
XM_005262154.3:c.3350C>A XP_005262211.2:p.Thr1117Asn
XM_005262154.5:c.3350C>A XP_005262211.2:p.Thr1117Asn
XM_005262155.3:c.3320C>A XP_005262212.2:p.Thr1107Asn
XM_005262155.4:c.3320C>A XP_005262212.2:p.Thr1107Asn
XM_005262156.3:c.3272C>A XP_005262213.2:p.Thr1091Asn
XM_005262156.4:c.3272C>A XP_005262213.2:p.Thr1091Asn
XM_005262157.3:c.3233C>A XP_005262214.2:p.Thr1078Asn
XM_005262157.5:c.3233C>A XP_005262214.2:p.Thr1078Asn
XM_006724666.2:c.3320C>A XP_006724729.1:p.Thr1107Asn
XM_006724666.4:c.3320C>A XP_006724729.1:p.Thr1107Asn
XM_006724667.2:c.3158C>A XP_006724730.1:p.Thr1053Asn
XM_006724667.3:c.3158C>A XP_006724730.1:p.Thr1053Asn
XM_006724668.2:c.3437C>A XP_006724731.1:p.Thr1146Asn
XM_006724668.3:c.3437C>A XP_006724731.1:p.Thr1146Asn
XM_017029601.2:c.3347C>A XP_016885090.1:p.Thr1116Asn
XM_017029602.1:c.3317C>A XP_016885091.1:p.Thr1106Asn
XM_017029603.1:c.3269C>A XP_016885092.1:p.Thr1090Asn
XM_017029604.2:c.3236C>A XP_016885093.1:p.Thr1079Asn
XM_017029605.1:c.3233C>A XP_016885094.1:p.Thr1078Asn
XM_017029606.2:c.3206C>A XP_016885095.1:p.Thr1069Asn
XM_017029607.2:c.3203C>A XP_016885096.1:p.Thr1068Asn
XM_017029608.2:c.3155C>A XP_016885097.1:p.Thr1052Asn
XM_017029609.1:c.3119C>A XP_016885098.1:p.Thr1040Asn
XM_017029610.1:c.3116C>A XP_016885099.1:p.Thr1039Asn
XM_017029611.1:c.3071C>A XP_016885100.1:p.Thr1024Asn
XR_001755700.2:n.3662C>A
XR_938400.1:n.3705C>A