Canonical Allele Identifier: CA16608940

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77616639T>A , CM000685.2:g.77616639T>A	GRCh38
NC_000023.10:g.76872107T>A , CM000685.1:g.76872107T>A	GRCh37
NC_000023.9:g.76758763T>A	NCBI36
NG_008838.2:g.174583A>T
NG_008838.3:g.174631A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.5540A>T MANE Select	ENSP00000362441.4:p.Tyr1847Phe
ENST00000675732.1:c.638A>T	ENSP00000502598.1:p.Tyr213Phe
ENST00000675908.1:n.1275A>T
ENST00000373344.9:c.5540A>T	ENSP00000362441.4:p.Tyr1847Phe
ENST00000395603.7:c.5426A>T	ENSP00000378967.3:p.Tyr1809Phe
ENST00000400866.4:c.521A>T	ENSP00000383663.3:p.Tyr174Phe
ENST00000480283.5:c.*5168A>T	ENSP00000480196.1:n.*5168A>T
NM_000489.4:c.5540A>T	NP_000480.3:p.Tyr1847Phe
NM_138270.3:c.5426A>T	NP_612114.2:p.Tyr1809Phe
XM_005262153.3:c.5537A>T	XP_005262210.2:p.Tyr1846Phe
XM_005262154.3:c.5453A>T	XP_005262211.2:p.Tyr1818Phe
XM_005262155.3:c.5423A>T	XP_005262212.2:p.Tyr1808Phe
XM_005262156.3:c.5375A>T	XP_005262213.2:p.Tyr1792Phe
XM_005262157.3:c.5336A>T	XP_005262214.2:p.Tyr1779Phe
XM_006724666.2:c.5423A>T	XP_006724729.1:p.Tyr1808Phe
XM_006724667.2:c.5261A>T	XP_006724730.1:p.Tyr1754Phe
XM_006724668.2:c.5540A>T	XP_006724731.1:p.Tyr1847Phe
XR_938400.1:n.5808A>T
NM_000489.5:c.5540A>T	NP_000480.3:p.Tyr1847Phe
XM_005262153.5:c.5537A>T	XP_005262210.2:p.Tyr1846Phe
XM_005262154.5:c.5453A>T	XP_005262211.2:p.Tyr1818Phe
XM_005262155.4:c.5423A>T	XP_005262212.2:p.Tyr1808Phe
XM_005262156.4:c.5375A>T	XP_005262213.2:p.Tyr1792Phe
XM_005262157.5:c.5336A>T	XP_005262214.2:p.Tyr1779Phe
XM_006724666.4:c.5423A>T	XP_006724729.1:p.Tyr1808Phe
XM_006724667.3:c.5261A>T	XP_006724730.1:p.Tyr1754Phe
XM_006724668.3:c.5540A>T	XP_006724731.1:p.Tyr1847Phe
XM_017029601.2:c.5450A>T	XP_016885090.1:p.Tyr1817Phe
XM_017029602.1:c.5420A>T	XP_016885091.1:p.Tyr1807Phe
XM_017029603.1:c.5372A>T	XP_016885092.1:p.Tyr1791Phe
XM_017029604.2:c.5339A>T	XP_016885093.1:p.Tyr1780Phe
XM_017029605.1:c.5336A>T	XP_016885094.1:p.Tyr1779Phe
XM_017029606.2:c.5309A>T	XP_016885095.1:p.Tyr1770Phe
XM_017029607.2:c.5306A>T	XP_016885096.1:p.Tyr1769Phe
XM_017029608.2:c.5258A>T	XP_016885097.1:p.Tyr1753Phe
XM_017029609.1:c.5222A>T	XP_016885098.1:p.Tyr1741Phe
XM_017029610.1:c.5219A>T	XP_016885099.1:p.Tyr1740Phe
XM_017029611.1:c.5174A>T	XP_016885100.1:p.Tyr1725Phe
XR_001755700.2:n.5765A>T
NM_138270.4:c.5426A>T	NP_612114.2:p.Tyr1809Phe
NM_000489.6:c.5540A>T MANE Select	NP_000480.3:p.Tyr1847Phe
NM_138270.5:c.5426A>T	NP_612114.2:p.Tyr1809Phe