Canonical Allele Identifier: CA878405013
Gene: ATRX HGNC NCBI

Linked Data

dbSNP Id: rs1470509910
MyVariant Identifiers: chrX:g.77574247T>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77574247T>C , CM000685.2:g.77574247T>C GRCh38
NC_000023.10:g.76829712T>C , CM000685.1:g.76829712T>C GRCh37
NC_000023.9:g.76716368T>C NCBI36
NG_008838.2:g.216975A>G
NG_008838.3:g.217023A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.6326+3A>G MANE Select ENSP00000362441.4:n.6326+3A>G
ENST00000675732.1:c.1424+3A>G ENSP00000502598.1:n.1424+3A>G
ENST00000373344.9:c.6326+3A>G ENSP00000362441.4:n.6326+3A>G
ENST00000395603.7:c.6212+3A>G ENSP00000378967.3:n.6212+3A>G
ENST00000480283.5:c.*5954+3A>G ENSP00000480196.1:n.*5954+3A>G
ENST00000623706.3:n.3396+3A>G
NM_000489.4:c.6326+3A>G NP_000480.3:n.6326+3A>G
NM_138270.3:c.6212+3A>G NP_612114.2:n.6212+3A>G
XM_005262153.3:c.6323+3A>G XP_005262210.2:n.6323+3A>G
XM_005262154.3:c.6239+3A>G XP_005262211.2:n.6239+3A>G
XM_005262155.3:c.6209+3A>G XP_005262212.2:n.6209+3A>G
XM_005262156.3:c.6161+3A>G XP_005262213.2:n.6161+3A>G
XM_005262157.3:c.6122+3A>G XP_005262214.2:n.6122+3A>G
XM_006724666.2:c.6209+3A>G XP_006724729.1:n.6209+3A>G
XM_006724667.2:c.6047+3A>G XP_006724730.1:n.6047+3A>G
XR_938400.1:n.6668+3A>G
NM_000489.5:c.6326+3A>G NP_000480.3:n.6326+3A>G
XM_005262153.5:c.6323+3A>G XP_005262210.2:n.6323+3A>G
XM_005262154.5:c.6239+3A>G XP_005262211.2:n.6239+3A>G
XM_005262155.4:c.6209+3A>G XP_005262212.2:n.6209+3A>G
XM_005262156.4:c.6161+3A>G XP_005262213.2:n.6161+3A>G
XM_005262157.5:c.6122+3A>G XP_005262214.2:n.6122+3A>G
XM_006724666.4:c.6209+3A>G XP_006724729.1:n.6209+3A>G
XM_006724667.3:c.6047+3A>G XP_006724730.1:n.6047+3A>G
XM_017029601.2:c.6236+3A>G XP_016885090.1:n.6236+3A>G
XM_017029602.1:c.6206+3A>G XP_016885091.1:n.6206+3A>G
XM_017029603.1:c.6158+3A>G XP_016885092.1:n.6158+3A>G
XM_017029604.2:c.6125+3A>G XP_016885093.1:n.6125+3A>G
XM_017029605.1:c.6122+3A>G XP_016885094.1:n.6122+3A>G
XM_017029606.2:c.6095+3A>G XP_016885095.1:n.6095+3A>G
XM_017029607.2:c.6092+3A>G XP_016885096.1:n.6092+3A>G
XM_017029608.2:c.6044+3A>G XP_016885097.1:n.6044+3A>G
XM_017029609.1:c.6008+3A>G XP_016885098.1:n.6008+3A>G
XM_017029610.1:c.6005+3A>G XP_016885099.1:n.6005+3A>G
XM_017029611.1:c.5960+3A>G XP_016885100.1:n.5960+3A>G
XR_001755700.2:n.6625+3A>G
NM_138270.4:c.6212+3A>G NP_612114.2:n.6212+3A>G
NM_000489.6:c.6326+3A>G MANE Select NP_000480.3:n.6326+3A>G
NM_138270.5:c.6212+3A>G NP_612114.2:n.6212+3A>G