Canonical Allele Identifier: CA413722498
Gene: ATRX HGNC NCBI

Linked Data

dbSNP Id: rs2148656473

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77688847G>C , CM000685.2:g.77688847G>C GRCh38
NC_000023.10:g.76944340G>C , CM000685.1:g.76944340G>C GRCh37
NC_000023.9:g.76830996G>C NCBI36
NG_008838.2:g.102375C>G
NG_008838.3:g.102423C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.565C>G MANE Select ENSP00000362441.4:p.His189Asp
ENST00000373344.9:c.565C>G ENSP00000362441.4:p.His189Asp
ENST00000395603.7:c.451C>G ENSP00000378967.3:p.His151Asp
ENST00000480283.5:c.*193C>G ENSP00000480196.1:n.*193C>G
ENST00000623321.3:c.400C>G ENSP00000485127.1:p.His134Asp
ENST00000624032.3:c.565C>G ENSP00000485253.1:p.His189Asp
ENST00000624166.3:c.448C>G ENSP00000485103.1:p.His150Asp
ENST00000624668.3:c.286C>G ENSP00000485100.1:p.His96Asp
ENST00000625063.3:c.380C>G
NM_000489.4:c.565C>G NP_000480.3:p.His189Asp
NM_138270.3:c.451C>G NP_612114.2:p.His151Asp
XM_005262153.3:c.562C>G XP_005262210.2:p.His188Asp
XM_005262154.3:c.565C>G XP_005262211.2:p.His189Asp
XM_005262155.3:c.448C>G XP_005262212.2:p.His150Asp
XM_005262156.3:c.400C>G XP_005262213.2:p.His134Asp
XM_005262157.3:c.448C>G XP_005262214.2:p.His150Asp
XM_006724666.2:c.448C>G XP_006724729.1:p.His150Asp
XM_006724667.2:c.286C>G XP_006724730.1:p.His96Asp
XM_006724668.2:c.565C>G XP_006724731.1:p.His189Asp
XR_938400.1:n.833C>G
NM_000489.5:c.565C>G NP_000480.3:p.His189Asp
XM_005262153.5:c.562C>G XP_005262210.2:p.His188Asp
XM_005262154.5:c.565C>G XP_005262211.2:p.His189Asp
XM_005262155.4:c.448C>G XP_005262212.2:p.His150Asp
XM_005262156.4:c.400C>G XP_005262213.2:p.His134Asp
XM_005262157.5:c.448C>G XP_005262214.2:p.His150Asp
XM_006724666.4:c.448C>G XP_006724729.1:p.His150Asp
XM_006724667.3:c.286C>G XP_006724730.1:p.His96Asp
XM_006724668.3:c.565C>G XP_006724731.1:p.His189Asp
XM_017029601.2:c.562C>G XP_016885090.1:p.His188Asp
XM_017029602.1:c.445C>G XP_016885091.1:p.His149Asp
XM_017029603.1:c.397C>G XP_016885092.1:p.His133Asp
XM_017029604.2:c.451C>G XP_016885093.1:p.His151Asp
XM_017029605.1:c.448C>G XP_016885094.1:p.His150Asp
XM_017029606.2:c.334C>G XP_016885095.1:p.His112Asp
XM_017029607.2:c.331C>G XP_016885096.1:p.His111Asp
XM_017029608.2:c.283C>G XP_016885097.1:p.His95Asp
XM_017029609.1:c.334C>G XP_016885098.1:p.His112Asp
XM_017029610.1:c.331C>G XP_016885099.1:p.His111Asp
XM_017029611.1:c.286C>G XP_016885100.1:p.His96Asp
XR_001755700.2:n.790C>G
NM_138270.4:c.451C>G NP_612114.2:p.His151Asp
NM_000489.6:c.565C>G MANE Select NP_000480.3:p.His189Asp
NM_138270.5:c.451C>G NP_612114.2:p.His151Asp