Canonical Allele Identifier: CA413704262

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763963A>T (hg19) ; chrX:g.77508485A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508485A>T , CM000685.2:g.77508485A>T	GRCh38
NC_000023.10:g.76763963A>T , CM000685.1:g.76763963A>T	GRCh37
NC_000023.9:g.76650619A>T	NCBI36
NG_008838.2:g.282737T>A
NG_008838.3:g.282785T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7345T>A MANE Select	ENSP00000362441.4:p.Ser2449Thr
ENST00000675732.1:c.2443T>A	ENSP00000502598.1:p.Ser815Thr
ENST00000373344.9:c.7345T>A	ENSP00000362441.4:p.Ser2449Thr
ENST00000395603.7:c.7231T>A	ENSP00000378967.3:p.Ser2411Thr
ENST00000480283.5:c.*6973T>A	ENSP00000480196.1:n.*6973T>A
ENST00000623706.3:n.5665T>A
ENST00000624766.1:n.576T>A
NM_000489.4:c.7345T>A	NP_000480.3:p.Ser2449Thr
NM_138270.3:c.7231T>A	NP_612114.2:p.Ser2411Thr
XM_005262153.3:c.7342T>A	XP_005262210.2:p.Ser2448Thr
XM_005262154.3:c.7258T>A	XP_005262211.2:p.Ser2420Thr
XM_005262155.3:c.7228T>A	XP_005262212.2:p.Ser2410Thr
XM_005262156.3:c.7180T>A	XP_005262213.2:p.Ser2394Thr
XM_005262157.3:c.7141T>A	XP_005262214.2:p.Ser2381Thr
XM_006724666.2:c.7228T>A	XP_006724729.1:p.Ser2410Thr
XM_006724667.2:c.7066T>A	XP_006724730.1:p.Ser2356Thr
XR_938400.1:n.8937T>A
NM_000489.5:c.7345T>A	NP_000480.3:p.Ser2449Thr
XM_005262153.5:c.7342T>A	XP_005262210.2:p.Ser2448Thr
XM_005262154.5:c.7258T>A	XP_005262211.2:p.Ser2420Thr
XM_005262155.4:c.7228T>A	XP_005262212.2:p.Ser2410Thr
XM_005262156.4:c.7180T>A	XP_005262213.2:p.Ser2394Thr
XM_005262157.5:c.7141T>A	XP_005262214.2:p.Ser2381Thr
XM_006724666.4:c.7228T>A	XP_006724729.1:p.Ser2410Thr
XM_006724667.3:c.7066T>A	XP_006724730.1:p.Ser2356Thr
XM_017029601.2:c.7255T>A	XP_016885090.1:p.Ser2419Thr
XM_017029602.1:c.7225T>A	XP_016885091.1:p.Ser2409Thr
XM_017029603.1:c.7177T>A	XP_016885092.1:p.Ser2393Thr
XM_017029604.2:c.7144T>A	XP_016885093.1:p.Ser2382Thr
XM_017029605.1:c.7141T>A	XP_016885094.1:p.Ser2381Thr
XM_017029606.2:c.7114T>A	XP_016885095.1:p.Ser2372Thr
XM_017029607.2:c.7111T>A	XP_016885096.1:p.Ser2371Thr
XM_017029608.2:c.7063T>A	XP_016885097.1:p.Ser2355Thr
XM_017029609.1:c.7027T>A	XP_016885098.1:p.Ser2343Thr
XM_017029610.1:c.7024T>A	XP_016885099.1:p.Ser2342Thr
XM_017029611.1:c.6979T>A	XP_016885100.1:p.Ser2327Thr
XR_001755700.2:n.7644T>A
NM_138270.4:c.7231T>A	NP_612114.2:p.Ser2411Thr
NM_000489.6:c.7345T>A MANE Select	NP_000480.3:p.Ser2449Thr
NM_138270.5:c.7231T>A	NP_612114.2:p.Ser2411Thr