Canonical Allele Identifier: CA413703581

Gene: ATRX

Linked Data

• ClinVar Variation Id: 523371
• ClinVar RCV Id: RCV000626691
• dbSNP Id: rs1557106484
• MyVariant Identifiers: chrX:g.76888803C>A (hg19) ; chrX:g.77633315C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77633315C>A , CM000685.2:g.77633315C>A	GRCh38
NC_000023.10:g.76888803C>A , CM000685.1:g.76888803C>A	GRCh37
NC_000023.9:g.76775459C>A	NCBI36
NG_008838.2:g.157907G>T
NG_008838.3:g.157955G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.5026G>T MANE Select	ENSP00000362441.4:p.Gly1676Cys
ENST00000675732.1:c.124G>T	ENSP00000502598.1:p.Gly42Cys
ENST00000675908.1:n.761G>T
ENST00000373344.9:c.5026G>T	ENSP00000362441.4:p.Gly1676Cys
ENST00000395603.7:c.4912G>T	ENSP00000378967.3:p.Gly1638Cys
ENST00000400866.4:c.7G>T	ENSP00000383663.3:p.Gly3Cys
ENST00000480283.5:c.*4654G>T	ENSP00000480196.1:n.*4654G>T
ENST00000624403.1:n.370G>T
NM_000489.4:c.5026G>T	NP_000480.3:p.Gly1676Cys
NM_138270.3:c.4912G>T	NP_612114.2:p.Gly1638Cys
XM_005262153.3:c.5023G>T	XP_005262210.2:p.Gly1675Cys
XM_005262154.3:c.4939G>T	XP_005262211.2:p.Gly1647Cys
XM_005262155.3:c.4909G>T	XP_005262212.2:p.Gly1637Cys
XM_005262156.3:c.4861G>T	XP_005262213.2:p.Gly1621Cys
XM_005262157.3:c.4822G>T	XP_005262214.2:p.Gly1608Cys
XM_006724666.2:c.4909G>T	XP_006724729.1:p.Gly1637Cys
XM_006724667.2:c.4747G>T	XP_006724730.1:p.Gly1583Cys
XM_006724668.2:c.5026G>T	XP_006724731.1:p.Gly1676Cys
XR_938400.1:n.5294G>T
NM_000489.5:c.5026G>T	NP_000480.3:p.Gly1676Cys
XM_005262153.5:c.5023G>T	XP_005262210.2:p.Gly1675Cys
XM_005262154.5:c.4939G>T	XP_005262211.2:p.Gly1647Cys
XM_005262155.4:c.4909G>T	XP_005262212.2:p.Gly1637Cys
XM_005262156.4:c.4861G>T	XP_005262213.2:p.Gly1621Cys
XM_005262157.5:c.4822G>T	XP_005262214.2:p.Gly1608Cys
XM_006724666.4:c.4909G>T	XP_006724729.1:p.Gly1637Cys
XM_006724667.3:c.4747G>T	XP_006724730.1:p.Gly1583Cys
XM_006724668.3:c.5026G>T	XP_006724731.1:p.Gly1676Cys
XM_017029601.2:c.4936G>T	XP_016885090.1:p.Gly1646Cys
XM_017029602.1:c.4906G>T	XP_016885091.1:p.Gly1636Cys
XM_017029603.1:c.4858G>T	XP_016885092.1:p.Gly1620Cys
XM_017029604.2:c.4825G>T	XP_016885093.1:p.Gly1609Cys
XM_017029605.1:c.4822G>T	XP_016885094.1:p.Gly1608Cys
XM_017029606.2:c.4795G>T	XP_016885095.1:p.Gly1599Cys
XM_017029607.2:c.4792G>T	XP_016885096.1:p.Gly1598Cys
XM_017029608.2:c.4744G>T	XP_016885097.1:p.Gly1582Cys
XM_017029609.1:c.4708G>T	XP_016885098.1:p.Gly1570Cys
XM_017029610.1:c.4705G>T	XP_016885099.1:p.Gly1569Cys
XM_017029611.1:c.4660G>T	XP_016885100.1:p.Gly1554Cys
XR_001755700.2:n.5251G>T
NM_138270.4:c.4912G>T	NP_612114.2:p.Gly1638Cys
NM_000489.6:c.5026G>T MANE Select	NP_000480.3:p.Gly1676Cys
NM_138270.5:c.4912G>T	NP_612114.2:p.Gly1638Cys