Canonical Allele Identifier: CA16608993

Gene: ATRX

Linked Data

• ClinVar Variation Id: 391590
• ClinVar RCV Id: RCV000419781 ; RCV000990876
• dbSNP Id: rs1057524153
• MyVariant Identifiers: chrX:g.76940019G>C (hg19) ; chrX:g.77684527G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77684527G>C , CM000685.2:g.77684527G>C	GRCh38
NC_000023.10:g.76940019G>C , CM000685.1:g.76940019G>C	GRCh37
NC_000023.9:g.76826675G>C	NCBI36
NG_008838.2:g.106695C>G
NG_008838.3:g.106743C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.729C>G MANE Select	ENSP00000362441.4:p.Cys243Trp
ENST00000373344.9:c.729C>G	ENSP00000362441.4:p.Cys243Trp
ENST00000395603.7:c.615C>G	ENSP00000378967.3:p.Cys205Trp
ENST00000480283.5:c.*357C>G	ENSP00000480196.1:n.*357C>G
ENST00000623321.3:c.564C>G	ENSP00000485127.1:p.Cys188Trp
ENST00000624032.3:c.729C>G	ENSP00000485253.1:p.Cys243Trp
ENST00000624166.3:c.612C>G	ENSP00000485103.1:p.Cys204Trp
ENST00000625063.3:c.544C>G
NM_000489.4:c.729C>G	NP_000480.3:p.Cys243Trp
NM_138270.3:c.615C>G	NP_612114.2:p.Cys205Trp
XM_005262153.3:c.726C>G	XP_005262210.2:p.Cys242Trp
XM_005262154.3:c.729C>G	XP_005262211.2:p.Cys243Trp
XM_005262155.3:c.612C>G	XP_005262212.2:p.Cys204Trp
XM_005262156.3:c.564C>G	XP_005262213.2:p.Cys188Trp
XM_005262157.3:c.612C>G	XP_005262214.2:p.Cys204Trp
XM_006724666.2:c.612C>G	XP_006724729.1:p.Cys204Trp
XM_006724667.2:c.450C>G	XP_006724730.1:p.Cys150Trp
XM_006724668.2:c.729C>G	XP_006724731.1:p.Cys243Trp
XR_938400.1:n.997C>G
NM_000489.5:c.729C>G	NP_000480.3:p.Cys243Trp
XM_005262153.5:c.726C>G	XP_005262210.2:p.Cys242Trp
XM_005262154.5:c.729C>G	XP_005262211.2:p.Cys243Trp
XM_005262155.4:c.612C>G	XP_005262212.2:p.Cys204Trp
XM_005262156.4:c.564C>G	XP_005262213.2:p.Cys188Trp
XM_005262157.5:c.612C>G	XP_005262214.2:p.Cys204Trp
XM_006724666.4:c.612C>G	XP_006724729.1:p.Cys204Trp
XM_006724667.3:c.450C>G	XP_006724730.1:p.Cys150Trp
XM_006724668.3:c.729C>G	XP_006724731.1:p.Cys243Trp
XM_017029601.2:c.726C>G	XP_016885090.1:p.Cys242Trp
XM_017029602.1:c.609C>G	XP_016885091.1:p.Cys203Trp
XM_017029603.1:c.561C>G	XP_016885092.1:p.Cys187Trp
XM_017029604.2:c.615C>G	XP_016885093.1:p.Cys205Trp
XM_017029605.1:c.612C>G	XP_016885094.1:p.Cys204Trp
XM_017029606.2:c.498C>G	XP_016885095.1:p.Cys166Trp
XM_017029607.2:c.495C>G	XP_016885096.1:p.Cys165Trp
XM_017029608.2:c.447C>G	XP_016885097.1:p.Cys149Trp
XM_017029609.1:c.498C>G	XP_016885098.1:p.Cys166Trp
XM_017029610.1:c.495C>G	XP_016885099.1:p.Cys165Trp
XM_017029611.1:c.450C>G	XP_016885100.1:p.Cys150Trp
XR_001755700.2:n.954C>G
NM_138270.4:c.615C>G	NP_612114.2:p.Cys205Trp
NM_000489.6:c.729C>G MANE Select	NP_000480.3:p.Cys243Trp
NM_138270.5:c.615C>G	NP_612114.2:p.Cys205Trp