Canonical Allele Identifier: CA208162
Gene: ATRX HGNC NCBI

Linked Data

ClinVar Variation Id: 193997
dbSNP Id: rs200420513
gnomAD v2: X-76918867-T-G
gnomAD v3: X-77663378-T-G
gnomAD v4: X-77663378-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77663378T>G , CM000685.2:g.77663378T>G GRCh38
NC_000023.10:g.76918867T>G , CM000685.1:g.76918867T>G GRCh37
NC_000023.9:g.76805523T>G NCBI36
NG_008838.2:g.127844A>C
NG_008838.3:g.127892A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.4120+4A>C MANE Select ENSP00000362441.4:n.4120+4A>C
ENST00000373344.9:c.4120+4A>C ENSP00000362441.4:n.4120+4A>C
ENST00000395603.7:c.4006+4A>C ENSP00000378967.3:n.4006+4A>C
ENST00000480283.5:c.*3748+4A>C ENSP00000480196.1:n.*3748+4A>C
ENST00000624166.3:c.3916+4A>C ENSP00000485103.1:n.3916+4A>C
NM_000489.4:c.4120+4A>C NP_000480.3:n.4120+4A>C
NM_138270.3:c.4006+4A>C NP_612114.2:n.4006+4A>C
XM_005262153.3:c.4117+4A>C XP_005262210.2:n.4117+4A>C
XM_005262154.3:c.4033+4A>C XP_005262211.2:n.4033+4A>C
XM_005262155.3:c.4003+4A>C XP_005262212.2:n.4003+4A>C
XM_005262156.3:c.3955+4A>C XP_005262213.2:n.3955+4A>C
XM_005262157.3:c.3916+4A>C XP_005262214.2:n.3916+4A>C
XM_006724666.2:c.4003+4A>C XP_006724729.1:n.4003+4A>C
XM_006724667.2:c.3841+4A>C XP_006724730.1:n.3841+4A>C
XM_006724668.2:c.4120+4A>C XP_006724731.1:n.4120+4A>C
XR_938400.1:n.4388+4A>C
NM_000489.5:c.4120+4A>C NP_000480.3:n.4120+4A>C
XM_005262153.5:c.4117+4A>C XP_005262210.2:n.4117+4A>C
XM_005262154.5:c.4033+4A>C XP_005262211.2:n.4033+4A>C
XM_005262155.4:c.4003+4A>C XP_005262212.2:n.4003+4A>C
XM_005262156.4:c.3955+4A>C XP_005262213.2:n.3955+4A>C
XM_005262157.5:c.3916+4A>C XP_005262214.2:n.3916+4A>C
XM_006724666.4:c.4003+4A>C XP_006724729.1:n.4003+4A>C
XM_006724667.3:c.3841+4A>C XP_006724730.1:n.3841+4A>C
XM_006724668.3:c.4120+4A>C XP_006724731.1:n.4120+4A>C
XM_017029601.2:c.4030+4A>C XP_016885090.1:n.4030+4A>C
XM_017029602.1:c.4000+4A>C XP_016885091.1:n.4000+4A>C
XM_017029603.1:c.3952+4A>C XP_016885092.1:n.3952+4A>C
XM_017029604.2:c.3919+4A>C XP_016885093.1:n.3919+4A>C
XM_017029605.1:c.3916+4A>C XP_016885094.1:n.3916+4A>C
XM_017029606.2:c.3889+4A>C XP_016885095.1:n.3889+4A>C
XM_017029607.2:c.3886+4A>C XP_016885096.1:n.3886+4A>C
XM_017029608.2:c.3838+4A>C XP_016885097.1:n.3838+4A>C
XM_017029609.1:c.3802+4A>C XP_016885098.1:n.3802+4A>C
XM_017029610.1:c.3799+4A>C XP_016885099.1:n.3799+4A>C
XM_017029611.1:c.3754+4A>C XP_016885100.1:n.3754+4A>C
XR_001755700.2:n.4345+4A>C
NM_138270.4:c.4006+4A>C NP_612114.2:n.4006+4A>C
NM_000489.6:c.4120+4A>C MANE Select NP_000480.3:n.4120+4A>C
NM_138270.5:c.4006+4A>C NP_612114.2:n.4006+4A>C