Canonical Allele Identifier: CA413702504

Gene: ATRX

Linked Data

• ClinVar Variation Id: 1992338
• ClinVar RCV Id: RCV002795908
• MyVariant Identifiers: chrX:g.76845394A>G (hg19) ; chrX:g.77589924A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77589924A>G , CM000685.2:g.77589924A>G	GRCh38
NC_000023.10:g.76845394A>G , CM000685.1:g.76845394A>G	GRCh37
NC_000023.9:g.76732050A>G	NCBI36
NG_008838.2:g.201298T>C
NG_008838.3:g.201346T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6127T>C MANE Select	ENSP00000362441.4:p.Ser2043Pro
ENST00000675732.1:c.1225T>C	ENSP00000502598.1:p.Ser409Pro
ENST00000373344.9:c.6127T>C	ENSP00000362441.4:p.Ser2043Pro
ENST00000395603.7:c.6013T>C	ENSP00000378967.3:p.Ser2005Pro
ENST00000480283.5:c.*5755T>C	ENSP00000480196.1:n.*5755T>C
ENST00000623316.1:c.611T>C
ENST00000623706.3:n.3197T>C
NM_000489.4:c.6127T>C	NP_000480.3:p.Ser2043Pro
NM_138270.3:c.6013T>C	NP_612114.2:p.Ser2005Pro
XM_005262153.3:c.6124T>C	XP_005262210.2:p.Ser2042Pro
XM_005262154.3:c.6040T>C	XP_005262211.2:p.Ser2014Pro
XM_005262155.3:c.6010T>C	XP_005262212.2:p.Ser2004Pro
XM_005262156.3:c.5962T>C	XP_005262213.2:p.Ser1988Pro
XM_005262157.3:c.5923T>C	XP_005262214.2:p.Ser1975Pro
XM_006724666.2:c.6010T>C	XP_006724729.1:p.Ser2004Pro
XM_006724667.2:c.5848T>C	XP_006724730.1:p.Ser1950Pro
XR_938400.1:n.6469T>C
NM_000489.5:c.6127T>C	NP_000480.3:p.Ser2043Pro
XM_005262153.5:c.6124T>C	XP_005262210.2:p.Ser2042Pro
XM_005262154.5:c.6040T>C	XP_005262211.2:p.Ser2014Pro
XM_005262155.4:c.6010T>C	XP_005262212.2:p.Ser2004Pro
XM_005262156.4:c.5962T>C	XP_005262213.2:p.Ser1988Pro
XM_005262157.5:c.5923T>C	XP_005262214.2:p.Ser1975Pro
XM_006724666.4:c.6010T>C	XP_006724729.1:p.Ser2004Pro
XM_006724667.3:c.5848T>C	XP_006724730.1:p.Ser1950Pro
XM_017029601.2:c.6037T>C	XP_016885090.1:p.Ser2013Pro
XM_017029602.1:c.6007T>C	XP_016885091.1:p.Ser2003Pro
XM_017029603.1:c.5959T>C	XP_016885092.1:p.Ser1987Pro
XM_017029604.2:c.5926T>C	XP_016885093.1:p.Ser1976Pro
XM_017029605.1:c.5923T>C	XP_016885094.1:p.Ser1975Pro
XM_017029606.2:c.5896T>C	XP_016885095.1:p.Ser1966Pro
XM_017029607.2:c.5893T>C	XP_016885096.1:p.Ser1965Pro
XM_017029608.2:c.5845T>C	XP_016885097.1:p.Ser1949Pro
XM_017029609.1:c.5809T>C	XP_016885098.1:p.Ser1937Pro
XM_017029610.1:c.5806T>C	XP_016885099.1:p.Ser1936Pro
XM_017029611.1:c.5761T>C	XP_016885100.1:p.Ser1921Pro
XR_001755700.2:n.6426T>C
NM_138270.4:c.6013T>C	NP_612114.2:p.Ser2005Pro
NM_000489.6:c.6127T>C MANE Select	NP_000480.3:p.Ser2043Pro
NM_138270.5:c.6013T>C	NP_612114.2:p.Ser2005Pro