Canonical Allele Identifier: CA413700226

Gene: ATRX

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.5540A>G MANE Select	NP_000480.3:p.Tyr1847Cys
ENST00000373344.11:c.5540A>G MANE Select	ENSP00000362441.4:p.Tyr1847Cys
NM_000489.4:c.5540A>G	NP_000480.3:p.Tyr1847Cys
NM_000489.5:c.5540A>G	NP_000480.3:p.Tyr1847Cys
NM_138270.3:c.5426A>G	NP_612114.2:p.Tyr1809Cys
NM_138270.4:c.5426A>G	NP_612114.2:p.Tyr1809Cys
NM_138270.5:c.5426A>G	NP_612114.2:p.Tyr1809Cys
ENST00000373344.9:c.5540A>G	ENSP00000362441.4:p.Tyr1847Cys
ENST00000395603.7:c.5426A>G	ENSP00000378967.3:p.Tyr1809Cys
ENST00000400866.4:c.521A>G	ENSP00000383663.3:p.Tyr174Cys
ENST00000480283.5:c.*5168A>G	ENSP00000480196.1:n.*5168A>G
ENST00000675732.1:c.638A>G	ENSP00000502598.1:p.Tyr213Cys
ENST00000675908.1:n.1275A>G
XM_005262153.3:c.5537A>G	XP_005262210.2:p.Tyr1846Cys
XM_005262153.5:c.5537A>G	XP_005262210.2:p.Tyr1846Cys
XM_005262154.3:c.5453A>G	XP_005262211.2:p.Tyr1818Cys
XM_005262154.5:c.5453A>G	XP_005262211.2:p.Tyr1818Cys
XM_005262155.3:c.5423A>G	XP_005262212.2:p.Tyr1808Cys
XM_005262155.4:c.5423A>G	XP_005262212.2:p.Tyr1808Cys
XM_005262156.3:c.5375A>G	XP_005262213.2:p.Tyr1792Cys
XM_005262156.4:c.5375A>G	XP_005262213.2:p.Tyr1792Cys
XM_005262157.3:c.5336A>G	XP_005262214.2:p.Tyr1779Cys
XM_005262157.5:c.5336A>G	XP_005262214.2:p.Tyr1779Cys
XM_006724666.2:c.5423A>G	XP_006724729.1:p.Tyr1808Cys
XM_006724666.4:c.5423A>G	XP_006724729.1:p.Tyr1808Cys
XM_006724667.2:c.5261A>G	XP_006724730.1:p.Tyr1754Cys
XM_006724667.3:c.5261A>G	XP_006724730.1:p.Tyr1754Cys
XM_006724668.2:c.5540A>G	XP_006724731.1:p.Tyr1847Cys
XM_006724668.3:c.5540A>G	XP_006724731.1:p.Tyr1847Cys
XM_017029601.2:c.5450A>G	XP_016885090.1:p.Tyr1817Cys
XM_017029602.1:c.5420A>G	XP_016885091.1:p.Tyr1807Cys
XM_017029603.1:c.5372A>G	XP_016885092.1:p.Tyr1791Cys
XM_017029604.2:c.5339A>G	XP_016885093.1:p.Tyr1780Cys
XM_017029605.1:c.5336A>G	XP_016885094.1:p.Tyr1779Cys
XM_017029606.2:c.5309A>G	XP_016885095.1:p.Tyr1770Cys
XM_017029607.2:c.5306A>G	XP_016885096.1:p.Tyr1769Cys
XM_017029608.2:c.5258A>G	XP_016885097.1:p.Tyr1753Cys
XM_017029609.1:c.5222A>G	XP_016885098.1:p.Tyr1741Cys
XM_017029610.1:c.5219A>G	XP_016885099.1:p.Tyr1740Cys
XM_017029611.1:c.5174A>G	XP_016885100.1:p.Tyr1725Cys
XR_001755700.2:n.5765A>G
XR_938400.1:n.5808A>G