Canonical Allele Identifier: CA331560032

Gene: ATRX

Linked Data

• dbSNP Id: rs922118769
• MyVariant Identifiers: chrX:g.76763849A>G (hg19) ; chrX:g.77508371A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508371A>G , CM000685.2:g.77508371A>G	GRCh38
NC_000023.10:g.76763849A>G , CM000685.1:g.76763849A>G	GRCh37
NC_000023.9:g.76650505A>G	NCBI36
NG_008838.2:g.282851T>C
NG_008838.3:g.282899T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7459T>C MANE Select	ENSP00000362441.4:p.Ser2487Pro
ENST00000675732.1:c.2557T>C	ENSP00000502598.1:p.Ser853Pro
ENST00000373344.9:c.7459T>C	ENSP00000362441.4:p.Ser2487Pro
ENST00000395603.7:c.7345T>C	ENSP00000378967.3:p.Ser2449Pro
ENST00000480283.5:c.*7087T>C	ENSP00000480196.1:n.*7087T>C
ENST00000623706.3:n.5779T>C
NM_000489.4:c.7459T>C	NP_000480.3:p.Ser2487Pro
NM_138270.3:c.7345T>C	NP_612114.2:p.Ser2449Pro
XM_005262153.3:c.7456T>C	XP_005262210.2:p.Ser2486Pro
XM_005262154.3:c.7372T>C	XP_005262211.2:p.Ser2458Pro
XM_005262155.3:c.7342T>C	XP_005262212.2:p.Ser2448Pro
XM_005262156.3:c.7294T>C	XP_005262213.2:p.Ser2432Pro
XM_005262157.3:c.7255T>C	XP_005262214.2:p.Ser2419Pro
XM_006724666.2:c.7342T>C	XP_006724729.1:p.Ser2448Pro
XM_006724667.2:c.7180T>C	XP_006724730.1:p.Ser2394Pro
XR_938400.1:n.9051T>C
NM_000489.5:c.7459T>C	NP_000480.3:p.Ser2487Pro
XM_005262153.5:c.7456T>C	XP_005262210.2:p.Ser2486Pro
XM_005262154.5:c.7372T>C	XP_005262211.2:p.Ser2458Pro
XM_005262155.4:c.7342T>C	XP_005262212.2:p.Ser2448Pro
XM_005262156.4:c.7294T>C	XP_005262213.2:p.Ser2432Pro
XM_005262157.5:c.7255T>C	XP_005262214.2:p.Ser2419Pro
XM_006724666.4:c.7342T>C	XP_006724729.1:p.Ser2448Pro
XM_006724667.3:c.7180T>C	XP_006724730.1:p.Ser2394Pro
XM_017029601.2:c.7369T>C	XP_016885090.1:p.Ser2457Pro
XM_017029602.1:c.7339T>C	XP_016885091.1:p.Ser2447Pro
XM_017029603.1:c.7291T>C	XP_016885092.1:p.Ser2431Pro
XM_017029604.2:c.7258T>C	XP_016885093.1:p.Ser2420Pro
XM_017029605.1:c.7255T>C	XP_016885094.1:p.Ser2419Pro
XM_017029606.2:c.7228T>C	XP_016885095.1:p.Ser2410Pro
XM_017029607.2:c.7225T>C	XP_016885096.1:p.Ser2409Pro
XM_017029608.2:c.7177T>C	XP_016885097.1:p.Ser2393Pro
XM_017029609.1:c.7141T>C	XP_016885098.1:p.Ser2381Pro
XM_017029610.1:c.7138T>C	XP_016885099.1:p.Ser2380Pro
XM_017029611.1:c.7093T>C	XP_016885100.1:p.Ser2365Pro
XR_001755700.2:n.7758T>C
NM_138270.4:c.7345T>C	NP_612114.2:p.Ser2449Pro
NM_000489.6:c.7459T>C MANE Select	NP_000480.3:p.Ser2487Pro
NM_138270.5:c.7345T>C	NP_612114.2:p.Ser2449Pro