Canonical Allele Identifier: CA413722491

Gene: ATRX

Linked Data

• dbSNP Id: rs1603233545
• MyVariant Identifiers: chrX:g.76944338G>C (hg19) ; chrX:g.77688845G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77688845G>C , CM000685.2:g.77688845G>C	GRCh38
NC_000023.10:g.76944338G>C , CM000685.1:g.76944338G>C	GRCh37
NC_000023.9:g.76830994G>C	NCBI36
NG_008838.2:g.102377C>G
NG_008838.3:g.102425C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.567C>G MANE Select	ENSP00000362441.4:p.His189Gln
ENST00000373344.9:c.567C>G	ENSP00000362441.4:p.His189Gln
ENST00000395603.7:c.453C>G	ENSP00000378967.3:p.His151Gln
ENST00000480283.5:c.*195C>G	ENSP00000480196.1:n.*195C>G
ENST00000623321.3:c.402C>G	ENSP00000485127.1:p.His134Gln
ENST00000624032.3:c.567C>G	ENSP00000485253.1:p.His189Gln
ENST00000624166.3:c.450C>G	ENSP00000485103.1:p.His150Gln
ENST00000624668.3:c.288C>G	ENSP00000485100.1:p.His96Gln
ENST00000625063.3:c.382C>G
NM_000489.4:c.567C>G	NP_000480.3:p.His189Gln
NM_138270.3:c.453C>G	NP_612114.2:p.His151Gln
XM_005262153.3:c.564C>G	XP_005262210.2:p.His188Gln
XM_005262154.3:c.567C>G	XP_005262211.2:p.His189Gln
XM_005262155.3:c.450C>G	XP_005262212.2:p.His150Gln
XM_005262156.3:c.402C>G	XP_005262213.2:p.His134Gln
XM_005262157.3:c.450C>G	XP_005262214.2:p.His150Gln
XM_006724666.2:c.450C>G	XP_006724729.1:p.His150Gln
XM_006724667.2:c.288C>G	XP_006724730.1:p.His96Gln
XM_006724668.2:c.567C>G	XP_006724731.1:p.His189Gln
XR_938400.1:n.835C>G
NM_000489.5:c.567C>G	NP_000480.3:p.His189Gln
XM_005262153.5:c.564C>G	XP_005262210.2:p.His188Gln
XM_005262154.5:c.567C>G	XP_005262211.2:p.His189Gln
XM_005262155.4:c.450C>G	XP_005262212.2:p.His150Gln
XM_005262156.4:c.402C>G	XP_005262213.2:p.His134Gln
XM_005262157.5:c.450C>G	XP_005262214.2:p.His150Gln
XM_006724666.4:c.450C>G	XP_006724729.1:p.His150Gln
XM_006724667.3:c.288C>G	XP_006724730.1:p.His96Gln
XM_006724668.3:c.567C>G	XP_006724731.1:p.His189Gln
XM_017029601.2:c.564C>G	XP_016885090.1:p.His188Gln
XM_017029602.1:c.447C>G	XP_016885091.1:p.His149Gln
XM_017029603.1:c.399C>G	XP_016885092.1:p.His133Gln
XM_017029604.2:c.453C>G	XP_016885093.1:p.His151Gln
XM_017029605.1:c.450C>G	XP_016885094.1:p.His150Gln
XM_017029606.2:c.336C>G	XP_016885095.1:p.His112Gln
XM_017029607.2:c.333C>G	XP_016885096.1:p.His111Gln
XM_017029608.2:c.285C>G	XP_016885097.1:p.His95Gln
XM_017029609.1:c.336C>G	XP_016885098.1:p.His112Gln
XM_017029610.1:c.333C>G	XP_016885099.1:p.His111Gln
XM_017029611.1:c.288C>G	XP_016885100.1:p.His96Gln
XR_001755700.2:n.792C>G
NM_138270.4:c.453C>G	NP_612114.2:p.His151Gln
NM_000489.6:c.567C>G MANE Select	NP_000480.3:p.His189Gln
NM_138270.5:c.453C>G	NP_612114.2:p.His151Gln