Canonical Allele Identifier: CA878405374
Gene: ATRX HGNC NCBI

Linked Data

dbSNP Id: rs1336088038
gnomAD v3: X-77574528-T-C
gnomAD v4: X-77574528-T-C
MyVariant Identifiers: chrX:g.77574528T>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77574528T>C , CM000685.2:g.77574528T>C GRCh38
NC_000023.10:g.76829993T>C , CM000685.1:g.76829993T>C GRCh37
NC_000023.9:g.76716649T>C NCBI36
NG_008838.2:g.216694A>G
NG_008838.3:g.216742A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.6218-170A>G MANE Select ENSP00000362441.4:n.6218-170A>G
ENST00000636152.1:n.53-170A>G
ENST00000675732.1:c.1316-170A>G ENSP00000502598.1:n.1316-170A>G
ENST00000373344.9:c.6218-170A>G ENSP00000362441.4:n.6218-170A>G
ENST00000395603.7:c.6104-170A>G ENSP00000378967.3:n.6104-170A>G
ENST00000480283.5:c.*5846-170A>G ENSP00000480196.1:n.*5846-170A>G
ENST00000623316.1:c.702-170A>G
ENST00000623706.3:n.3288-170A>G
NM_000489.4:c.6218-170A>G NP_000480.3:n.6218-170A>G
NM_138270.3:c.6104-170A>G NP_612114.2:n.6104-170A>G
XM_005262153.3:c.6215-170A>G XP_005262210.2:n.6215-170A>G
XM_005262154.3:c.6131-170A>G XP_005262211.2:n.6131-170A>G
XM_005262155.3:c.6101-170A>G XP_005262212.2:n.6101-170A>G
XM_005262156.3:c.6053-170A>G XP_005262213.2:n.6053-170A>G
XM_005262157.3:c.6014-170A>G XP_005262214.2:n.6014-170A>G
XM_006724666.2:c.6101-170A>G XP_006724729.1:n.6101-170A>G
XM_006724667.2:c.5939-170A>G XP_006724730.1:n.5939-170A>G
XR_938400.1:n.6560-170A>G
NM_000489.5:c.6218-170A>G NP_000480.3:n.6218-170A>G
XM_005262153.5:c.6215-170A>G XP_005262210.2:n.6215-170A>G
XM_005262154.5:c.6131-170A>G XP_005262211.2:n.6131-170A>G
XM_005262155.4:c.6101-170A>G XP_005262212.2:n.6101-170A>G
XM_005262156.4:c.6053-170A>G XP_005262213.2:n.6053-170A>G
XM_005262157.5:c.6014-170A>G XP_005262214.2:n.6014-170A>G
XM_006724666.4:c.6101-170A>G XP_006724729.1:n.6101-170A>G
XM_006724667.3:c.5939-170A>G XP_006724730.1:n.5939-170A>G
XM_017029601.2:c.6128-170A>G XP_016885090.1:n.6128-170A>G
XM_017029602.1:c.6098-170A>G XP_016885091.1:n.6098-170A>G
XM_017029603.1:c.6050-170A>G XP_016885092.1:n.6050-170A>G
XM_017029604.2:c.6017-170A>G XP_016885093.1:n.6017-170A>G
XM_017029605.1:c.6014-170A>G XP_016885094.1:n.6014-170A>G
XM_017029606.2:c.5987-170A>G XP_016885095.1:n.5987-170A>G
XM_017029607.2:c.5984-170A>G XP_016885096.1:n.5984-170A>G
XM_017029608.2:c.5936-170A>G XP_016885097.1:n.5936-170A>G
XM_017029609.1:c.5900-170A>G XP_016885098.1:n.5900-170A>G
XM_017029610.1:c.5897-170A>G XP_016885099.1:n.5897-170A>G
XM_017029611.1:c.5852-170A>G XP_016885100.1:n.5852-170A>G
XR_001755700.2:n.6517-170A>G
NM_138270.4:c.6104-170A>G NP_612114.2:n.6104-170A>G
NM_000489.6:c.6218-170A>G MANE Select NP_000480.3:n.6218-170A>G
NM_138270.5:c.6104-170A>G NP_612114.2:n.6104-170A>G