Canonical Allele Identifier: CA413704251

Gene: ATRX

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7345T>G MANE Select	ENSP00000362441.4:p.Ser2449Ala
ENST00000675732.1:c.2443T>G	ENSP00000502598.1:p.Ser815Ala
ENST00000373344.9:c.7345T>G	ENSP00000362441.4:p.Ser2449Ala
ENST00000395603.7:c.7231T>G	ENSP00000378967.3:p.Ser2411Ala
ENST00000480283.5:c.*6973T>G	ENSP00000480196.1:n.*6973T>G
ENST00000623706.3:n.5665T>G
ENST00000624766.1:n.576T>G
NM_000489.4:c.7345T>G	NP_000480.3:p.Ser2449Ala
NM_138270.3:c.7231T>G	NP_612114.2:p.Ser2411Ala
XM_005262153.3:c.7342T>G	XP_005262210.2:p.Ser2448Ala
XM_005262154.3:c.7258T>G	XP_005262211.2:p.Ser2420Ala
XM_005262155.3:c.7228T>G	XP_005262212.2:p.Ser2410Ala
XM_005262156.3:c.7180T>G	XP_005262213.2:p.Ser2394Ala
XM_005262157.3:c.7141T>G	XP_005262214.2:p.Ser2381Ala
XM_006724666.2:c.7228T>G	XP_006724729.1:p.Ser2410Ala
XM_006724667.2:c.7066T>G	XP_006724730.1:p.Ser2356Ala
XR_938400.1:n.8937T>G
NM_000489.5:c.7345T>G	NP_000480.3:p.Ser2449Ala
XM_005262153.5:c.7342T>G	XP_005262210.2:p.Ser2448Ala
XM_005262154.5:c.7258T>G	XP_005262211.2:p.Ser2420Ala
XM_005262155.4:c.7228T>G	XP_005262212.2:p.Ser2410Ala
XM_005262156.4:c.7180T>G	XP_005262213.2:p.Ser2394Ala
XM_005262157.5:c.7141T>G	XP_005262214.2:p.Ser2381Ala
XM_006724666.4:c.7228T>G	XP_006724729.1:p.Ser2410Ala
XM_006724667.3:c.7066T>G	XP_006724730.1:p.Ser2356Ala
XM_017029601.2:c.7255T>G	XP_016885090.1:p.Ser2419Ala
XM_017029602.1:c.7225T>G	XP_016885091.1:p.Ser2409Ala
XM_017029603.1:c.7177T>G	XP_016885092.1:p.Ser2393Ala
XM_017029604.2:c.7144T>G	XP_016885093.1:p.Ser2382Ala
XM_017029605.1:c.7141T>G	XP_016885094.1:p.Ser2381Ala
XM_017029606.2:c.7114T>G	XP_016885095.1:p.Ser2372Ala
XM_017029607.2:c.7111T>G	XP_016885096.1:p.Ser2371Ala
XM_017029608.2:c.7063T>G	XP_016885097.1:p.Ser2355Ala
XM_017029609.1:c.7027T>G	XP_016885098.1:p.Ser2343Ala
XM_017029610.1:c.7024T>G	XP_016885099.1:p.Ser2342Ala
XM_017029611.1:c.6979T>G	XP_016885100.1:p.Ser2327Ala
XR_001755700.2:n.7644T>G
NM_138270.4:c.7231T>G	NP_612114.2:p.Ser2411Ala
NM_000489.6:c.7345T>G MANE Select	NP_000480.3:p.Ser2449Ala
NM_138270.5:c.7231T>G	NP_612114.2:p.Ser2411Ala