Canonical Allele Identifier: CA16043294
Gene: ATRX HGNC NCBI

Linked Data

ClinVar Variation Id: 373112
ClinVar RCV Id: RCV000414709
dbSNP Id: rs1057518225
MyVariant Identifiers: chrX:g.76776319C>G (hg19) chrX:g.77520841C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77520841C>G , CM000685.2:g.77520841C>G GRCh38
NC_000023.10:g.76776319C>G , CM000685.1:g.76776319C>G GRCh37
NC_000023.9:g.76662975C>G NCBI36
NG_008838.2:g.270381G>C
NG_008838.3:g.270429G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000373344.11:c.7147G>C MANE Select ENSP00000362441.4:p.Asp2383His
ENST00000675732.1:c.2245G>C ENSP00000502598.1:p.Asp749His
ENST00000373344.9:c.7147G>C ENSP00000362441.4:p.Asp2383His
ENST00000395603.7:c.7033G>C ENSP00000378967.3:p.Asp2345His
ENST00000480283.5:c.*6775G>C ENSP00000480196.1:n.*6775G>C
ENST00000623706.3:n.5467G>C
ENST00000624766.1:n.378G>C
NM_000489.4:c.7147G>C NP_000480.3:p.Asp2383His
NM_138270.3:c.7033G>C NP_612114.2:p.Asp2345His
XM_005262153.3:c.7144G>C XP_005262210.2:p.Asp2382His
XM_005262154.3:c.7060G>C XP_005262211.2:p.Asp2354His
XM_005262155.3:c.7030G>C XP_005262212.2:p.Asp2344His
XM_005262156.3:c.6982G>C XP_005262213.2:p.Asp2328His
XM_005262157.3:c.6943G>C XP_005262214.2:p.Asp2315His
XM_006724666.2:c.7030G>C XP_006724729.1:p.Asp2344His
XM_006724667.2:c.6868G>C XP_006724730.1:p.Asp2290His
XR_938400.1:n.8739G>C
NM_000489.5:c.7147G>C NP_000480.3:p.Asp2383His
XM_005262153.5:c.7144G>C XP_005262210.2:p.Asp2382His
XM_005262154.5:c.7060G>C XP_005262211.2:p.Asp2354His
XM_005262155.4:c.7030G>C XP_005262212.2:p.Asp2344His
XM_005262156.4:c.6982G>C XP_005262213.2:p.Asp2328His
XM_005262157.5:c.6943G>C XP_005262214.2:p.Asp2315His
XM_006724666.4:c.7030G>C XP_006724729.1:p.Asp2344His
XM_006724667.3:c.6868G>C XP_006724730.1:p.Asp2290His
XM_017029601.2:c.7057G>C XP_016885090.1:p.Asp2353His
XM_017029602.1:c.7027G>C XP_016885091.1:p.Asp2343His
XM_017029603.1:c.6979G>C XP_016885092.1:p.Asp2327His
XM_017029604.2:c.6946G>C XP_016885093.1:p.Asp2316His
XM_017029605.1:c.6943G>C XP_016885094.1:p.Asp2315His
XM_017029606.2:c.6916G>C XP_016885095.1:p.Asp2306His
XM_017029607.2:c.6913G>C XP_016885096.1:p.Asp2305His
XM_017029608.2:c.6865G>C XP_016885097.1:p.Asp2289His
XM_017029609.1:c.6829G>C XP_016885098.1:p.Asp2277His
XM_017029610.1:c.6826G>C XP_016885099.1:p.Asp2276His
XM_017029611.1:c.6781G>C XP_016885100.1:p.Asp2261His
XR_001755700.2:n.7446G>C
NM_138270.4:c.7033G>C NP_612114.2:p.Asp2345His
NM_000489.6:c.7147G>C MANE Select NP_000480.3:p.Asp2383His
NM_138270.5:c.7033G>C NP_612114.2:p.Asp2345His
Search 100 bp 5'
Search 100 bp 3'