Canonical Allele Identifier: CA517374106
Gene: ATRX HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.76763967A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77508489A>G , CM000685.2:g.77508489A>G GRCh38
NC_000023.10:g.76763967A>G , CM000685.1:g.76763967A>G GRCh37
NC_000023.9:g.76650623A>G NCBI36
NG_008838.2:g.282733T>C
NG_008838.3:g.282781T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.7341T>C MANE Select ENSP00000362441.4:p.Asn2447=
ENST00000675732.1:c.2439T>C ENSP00000502598.1:p.Asn813=
ENST00000373344.9:c.7341T>C ENSP00000362441.4:p.Asn2447=
ENST00000395603.7:c.7227T>C ENSP00000378967.3:p.Asn2409=
ENST00000480283.5:c.*6969T>C ENSP00000480196.1:n.*6969T>C
ENST00000623706.3:n.5661T>C
ENST00000624766.1:n.572T>C
NM_000489.4:c.7341T>C NP_000480.3:p.Asn2447=
NM_138270.3:c.7227T>C NP_612114.2:p.Asn2409=
XM_005262153.3:c.7338T>C XP_005262210.2:p.Asn2446=
XM_005262154.3:c.7254T>C XP_005262211.2:p.Asn2418=
XM_005262155.3:c.7224T>C XP_005262212.2:p.Asn2408=
XM_005262156.3:c.7176T>C XP_005262213.2:p.Asn2392=
XM_005262157.3:c.7137T>C XP_005262214.2:p.Asn2379=
XM_006724666.2:c.7224T>C XP_006724729.1:p.Asn2408=
XM_006724667.2:c.7062T>C XP_006724730.1:p.Asn2354=
XR_938400.1:n.8933T>C
NM_000489.5:c.7341T>C NP_000480.3:p.Asn2447=
XM_005262153.5:c.7338T>C XP_005262210.2:p.Asn2446=
XM_005262154.5:c.7254T>C XP_005262211.2:p.Asn2418=
XM_005262155.4:c.7224T>C XP_005262212.2:p.Asn2408=
XM_005262156.4:c.7176T>C XP_005262213.2:p.Asn2392=
XM_005262157.5:c.7137T>C XP_005262214.2:p.Asn2379=
XM_006724666.4:c.7224T>C XP_006724729.1:p.Asn2408=
XM_006724667.3:c.7062T>C XP_006724730.1:p.Asn2354=
XM_017029601.2:c.7251T>C XP_016885090.1:p.Asn2417=
XM_017029602.1:c.7221T>C XP_016885091.1:p.Asn2407=
XM_017029603.1:c.7173T>C XP_016885092.1:p.Asn2391=
XM_017029604.2:c.7140T>C XP_016885093.1:p.Asn2380=
XM_017029605.1:c.7137T>C XP_016885094.1:p.Asn2379=
XM_017029606.2:c.7110T>C XP_016885095.1:p.Asn2370=
XM_017029607.2:c.7107T>C XP_016885096.1:p.Asn2369=
XM_017029608.2:c.7059T>C XP_016885097.1:p.Asn2353=
XM_017029609.1:c.7023T>C XP_016885098.1:p.Asn2341=
XM_017029610.1:c.7020T>C XP_016885099.1:p.Asn2340=
XM_017029611.1:c.6975T>C XP_016885100.1:p.Asn2325=
XR_001755700.2:n.7640T>C
NM_138270.4:c.7227T>C NP_612114.2:p.Asn2409=
NM_000489.6:c.7341T>C MANE Select NP_000480.3:p.Asn2447=
NM_138270.5:c.7227T>C NP_612114.2:p.Asn2409=