Canonical Allele Identifier: CA517374415
Gene: ATRX HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.76776353C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77520875C>G , CM000685.2:g.77520875C>G GRCh38
NC_000023.10:g.76776353C>G , CM000685.1:g.76776353C>G GRCh37
NC_000023.9:g.76663009C>G NCBI36
NG_008838.2:g.270347G>C
NG_008838.3:g.270395G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.7113G>C MANE Select ENSP00000362441.4:p.Ala2371=
ENST00000675732.1:c.2211G>C ENSP00000502598.1:p.Ala737=
ENST00000373344.9:c.7113G>C ENSP00000362441.4:p.Ala2371=
ENST00000395603.7:c.6999G>C ENSP00000378967.3:p.Ala2333=
ENST00000480283.5:c.*6741G>C ENSP00000480196.1:n.*6741G>C
ENST00000623706.3:n.5433G>C
ENST00000624766.1:n.344G>C
NM_000489.4:c.7113G>C NP_000480.3:p.Ala2371=
NM_138270.3:c.6999G>C NP_612114.2:p.Ala2333=
XM_005262153.3:c.7110G>C XP_005262210.2:p.Ala2370=
XM_005262154.3:c.7026G>C XP_005262211.2:p.Ala2342=
XM_005262155.3:c.6996G>C XP_005262212.2:p.Ala2332=
XM_005262156.3:c.6948G>C XP_005262213.2:p.Ala2316=
XM_005262157.3:c.6909G>C XP_005262214.2:p.Ala2303=
XM_006724666.2:c.6996G>C XP_006724729.1:p.Ala2332=
XM_006724667.2:c.6834G>C XP_006724730.1:p.Ala2278=
XR_938400.1:n.8705G>C
NM_000489.5:c.7113G>C NP_000480.3:p.Ala2371=
XM_005262153.5:c.7110G>C XP_005262210.2:p.Ala2370=
XM_005262154.5:c.7026G>C XP_005262211.2:p.Ala2342=
XM_005262155.4:c.6996G>C XP_005262212.2:p.Ala2332=
XM_005262156.4:c.6948G>C XP_005262213.2:p.Ala2316=
XM_005262157.5:c.6909G>C XP_005262214.2:p.Ala2303=
XM_006724666.4:c.6996G>C XP_006724729.1:p.Ala2332=
XM_006724667.3:c.6834G>C XP_006724730.1:p.Ala2278=
XM_017029601.2:c.7023G>C XP_016885090.1:p.Ala2341=
XM_017029602.1:c.6993G>C XP_016885091.1:p.Ala2331=
XM_017029603.1:c.6945G>C XP_016885092.1:p.Ala2315=
XM_017029604.2:c.6912G>C XP_016885093.1:p.Ala2304=
XM_017029605.1:c.6909G>C XP_016885094.1:p.Ala2303=
XM_017029606.2:c.6882G>C XP_016885095.1:p.Ala2294=
XM_017029607.2:c.6879G>C XP_016885096.1:p.Ala2293=
XM_017029608.2:c.6831G>C XP_016885097.1:p.Ala2277=
XM_017029609.1:c.6795G>C XP_016885098.1:p.Ala2265=
XM_017029610.1:c.6792G>C XP_016885099.1:p.Ala2264=
XM_017029611.1:c.6747G>C XP_016885100.1:p.Ala2249=
XR_001755700.2:n.7412G>C
NM_138270.4:c.6999G>C NP_612114.2:p.Ala2333=
NM_000489.6:c.7113G>C MANE Select NP_000480.3:p.Ala2371=
NM_138270.5:c.6999G>C NP_612114.2:p.Ala2333=