Canonical Allele Identifier: CA878374860
Gene: ATRX HGNC NCBI

Linked Data

dbSNP Id: rs1163858874
gnomAD v3: X-77652432-G-C
gnomAD v4: X-77652432-G-C
MyVariant Identifiers: chrX:g.77652432G>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77652432G>C , CM000685.2:g.77652432G>C GRCh38
NC_000023.10:g.76907922G>C , CM000685.1:g.76907922G>C GRCh37
NC_000023.9:g.76794578G>C NCBI36
NG_008838.2:g.138790C>G
NG_008838.3:g.138838C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.4318-79C>G MANE Select ENSP00000362441.4:n.4318-79C>G
ENST00000373344.9:c.4318-79C>G ENSP00000362441.4:n.4318-79C>G
ENST00000395603.7:c.4204-79C>G ENSP00000378967.3:n.4204-79C>G
ENST00000480283.5:c.*3946-79C>G ENSP00000480196.1:n.*3946-79C>G
NM_000489.4:c.4318-79C>G NP_000480.3:n.4318-79C>G
NM_138270.3:c.4204-79C>G NP_612114.2:n.4204-79C>G
XM_005262153.3:c.4315-79C>G XP_005262210.2:n.4315-79C>G
XM_005262154.3:c.4231-79C>G XP_005262211.2:n.4231-79C>G
XM_005262155.3:c.4201-79C>G XP_005262212.2:n.4201-79C>G
XM_005262156.3:c.4153-79C>G XP_005262213.2:n.4153-79C>G
XM_005262157.3:c.4114-79C>G XP_005262214.2:n.4114-79C>G
XM_006724666.2:c.4201-79C>G XP_006724729.1:n.4201-79C>G
XM_006724667.2:c.4039-79C>G XP_006724730.1:n.4039-79C>G
XM_006724668.2:c.4318-79C>G XP_006724731.1:n.4318-79C>G
XR_938400.1:n.4586-79C>G
NM_000489.5:c.4318-79C>G NP_000480.3:n.4318-79C>G
XM_005262153.5:c.4315-79C>G XP_005262210.2:n.4315-79C>G
XM_005262154.5:c.4231-79C>G XP_005262211.2:n.4231-79C>G
XM_005262155.4:c.4201-79C>G XP_005262212.2:n.4201-79C>G
XM_005262156.4:c.4153-79C>G XP_005262213.2:n.4153-79C>G
XM_005262157.5:c.4114-79C>G XP_005262214.2:n.4114-79C>G
XM_006724666.4:c.4201-79C>G XP_006724729.1:n.4201-79C>G
XM_006724667.3:c.4039-79C>G XP_006724730.1:n.4039-79C>G
XM_006724668.3:c.4318-79C>G XP_006724731.1:n.4318-79C>G
XM_017029601.2:c.4228-79C>G XP_016885090.1:n.4228-79C>G
XM_017029602.1:c.4198-79C>G XP_016885091.1:n.4198-79C>G
XM_017029603.1:c.4150-79C>G XP_016885092.1:n.4150-79C>G
XM_017029604.2:c.4117-79C>G XP_016885093.1:n.4117-79C>G
XM_017029605.1:c.4114-79C>G XP_016885094.1:n.4114-79C>G
XM_017029606.2:c.4087-79C>G XP_016885095.1:n.4087-79C>G
XM_017029607.2:c.4084-79C>G XP_016885096.1:n.4084-79C>G
XM_017029608.2:c.4036-79C>G XP_016885097.1:n.4036-79C>G
XM_017029609.1:c.4000-79C>G XP_016885098.1:n.4000-79C>G
XM_017029610.1:c.3997-79C>G XP_016885099.1:n.3997-79C>G
XM_017029611.1:c.3952-79C>G XP_016885100.1:n.3952-79C>G
XR_001755700.2:n.4543-79C>G
NM_138270.4:c.4204-79C>G NP_612114.2:n.4204-79C>G
NM_000489.6:c.4318-79C>G MANE Select NP_000480.3:n.4318-79C>G
NM_138270.5:c.4204-79C>G NP_612114.2:n.4204-79C>G