Canonical Allele Identifier: CA413701291

Gene: ATRX

Linked Data

• ClinVar Variation Id: 520958
• ClinVar RCV Id: RCV000623581 ; RCV001201290 ; RCV001855297
• dbSNP Id: rs141240580
• MyVariant Identifiers: chrX:g.76875864C>G (hg19) ; chrX:g.77620396C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77620396C>G , CM000685.2:g.77620396C>G	GRCh38
NC_000023.10:g.76875864C>G , CM000685.1:g.76875864C>G	GRCh37
NC_000023.9:g.76762520C>G	NCBI36
NG_008838.2:g.170826G>C
NG_008838.3:g.170874G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.5271G>C MANE Select	ENSP00000362441.4:p.Glu1757Asp
ENST00000675732.1:c.369G>C	ENSP00000502598.1:p.Glu123Asp
ENST00000675908.1:n.1006G>C
ENST00000373344.9:c.5271G>C	ENSP00000362441.4:p.Glu1757Asp
ENST00000395603.7:c.5157G>C	ENSP00000378967.3:p.Glu1719Asp
ENST00000400866.4:c.252G>C	ENSP00000383663.3:p.Glu84Asp
ENST00000480283.5:c.*4899G>C	ENSP00000480196.1:n.*4899G>C
NM_000489.4:c.5271G>C	NP_000480.3:p.Glu1757Asp
NM_138270.3:c.5157G>C	NP_612114.2:p.Glu1719Asp
XM_005262153.3:c.5268G>C	XP_005262210.2:p.Glu1756Asp
XM_005262154.3:c.5184G>C	XP_005262211.2:p.Glu1728Asp
XM_005262155.3:c.5154G>C	XP_005262212.2:p.Glu1718Asp
XM_005262156.3:c.5106G>C	XP_005262213.2:p.Glu1702Asp
XM_005262157.3:c.5067G>C	XP_005262214.2:p.Glu1689Asp
XM_006724666.2:c.5154G>C	XP_006724729.1:p.Glu1718Asp
XM_006724667.2:c.4992G>C	XP_006724730.1:p.Glu1664Asp
XM_006724668.2:c.5271G>C	XP_006724731.1:p.Glu1757Asp
XR_938400.1:n.5539G>C
NM_000489.5:c.5271G>C	NP_000480.3:p.Glu1757Asp
XM_005262153.5:c.5268G>C	XP_005262210.2:p.Glu1756Asp
XM_005262154.5:c.5184G>C	XP_005262211.2:p.Glu1728Asp
XM_005262155.4:c.5154G>C	XP_005262212.2:p.Glu1718Asp
XM_005262156.4:c.5106G>C	XP_005262213.2:p.Glu1702Asp
XM_005262157.5:c.5067G>C	XP_005262214.2:p.Glu1689Asp
XM_006724666.4:c.5154G>C	XP_006724729.1:p.Glu1718Asp
XM_006724667.3:c.4992G>C	XP_006724730.1:p.Glu1664Asp
XM_006724668.3:c.5271G>C	XP_006724731.1:p.Glu1757Asp
XM_017029601.2:c.5181G>C	XP_016885090.1:p.Glu1727Asp
XM_017029602.1:c.5151G>C	XP_016885091.1:p.Glu1717Asp
XM_017029603.1:c.5103G>C	XP_016885092.1:p.Glu1701Asp
XM_017029604.2:c.5070G>C	XP_016885093.1:p.Glu1690Asp
XM_017029605.1:c.5067G>C	XP_016885094.1:p.Glu1689Asp
XM_017029606.2:c.5040G>C	XP_016885095.1:p.Glu1680Asp
XM_017029607.2:c.5037G>C	XP_016885096.1:p.Glu1679Asp
XM_017029608.2:c.4989G>C	XP_016885097.1:p.Glu1663Asp
XM_017029609.1:c.4953G>C	XP_016885098.1:p.Glu1651Asp
XM_017029610.1:c.4950G>C	XP_016885099.1:p.Glu1650Asp
XM_017029611.1:c.4905G>C	XP_016885100.1:p.Glu1635Asp
XR_001755700.2:n.5496G>C
NM_138270.4:c.5157G>C	NP_612114.2:p.Glu1719Asp
NM_000489.6:c.5271G>C MANE Select	NP_000480.3:p.Glu1757Asp
NM_138270.5:c.5157G>C	NP_612114.2:p.Glu1719Asp