Canonical Allele Identifier: CA331565685

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77616622G>A , CM000685.2:g.77616622G>A	GRCh38
NC_000023.10:g.76872090G>A , CM000685.1:g.76872090G>A	GRCh37
NC_000023.9:g.76758746G>A	NCBI36
NG_008838.2:g.174600C>T
NG_008838.3:g.174648C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.5557C>T MANE Select	NP_000480.3:p.His1853Tyr
ENST00000373344.11:c.5557C>T MANE Select	ENSP00000362441.4:p.His1853Tyr
NM_000489.4:c.5557C>T	NP_000480.3:p.His1853Tyr
NM_000489.5:c.5557C>T	NP_000480.3:p.His1853Tyr
NM_138270.3:c.5443C>T	NP_612114.2:p.His1815Tyr
NM_138270.4:c.5443C>T	NP_612114.2:p.His1815Tyr
NM_138270.5:c.5443C>T	NP_612114.2:p.His1815Tyr
ENST00000373344.9:c.5557C>T	ENSP00000362441.4:p.His1853Tyr
ENST00000395603.7:c.5443C>T	ENSP00000378967.3:p.His1815Tyr
ENST00000400866.4:c.538C>T	ENSP00000383663.3:p.His180Tyr
ENST00000480283.5:c.*5185C>T	ENSP00000480196.1:n.*5185C>T
ENST00000675732.1:c.655C>T	ENSP00000502598.1:p.His219Tyr
ENST00000675908.1:n.1292C>T
XM_005262153.3:c.5554C>T	XP_005262210.2:p.His1852Tyr
XM_005262153.5:c.5554C>T	XP_005262210.2:p.His1852Tyr
XM_005262154.3:c.5470C>T	XP_005262211.2:p.His1824Tyr
XM_005262154.5:c.5470C>T	XP_005262211.2:p.His1824Tyr
XM_005262155.3:c.5440C>T	XP_005262212.2:p.His1814Tyr
XM_005262155.4:c.5440C>T	XP_005262212.2:p.His1814Tyr
XM_005262156.3:c.5392C>T	XP_005262213.2:p.His1798Tyr
XM_005262156.4:c.5392C>T	XP_005262213.2:p.His1798Tyr
XM_005262157.3:c.5353C>T	XP_005262214.2:p.His1785Tyr
XM_005262157.5:c.5353C>T	XP_005262214.2:p.His1785Tyr
XM_006724666.2:c.5440C>T	XP_006724729.1:p.His1814Tyr
XM_006724666.4:c.5440C>T	XP_006724729.1:p.His1814Tyr
XM_006724667.2:c.5278C>T	XP_006724730.1:p.His1760Tyr
XM_006724667.3:c.5278C>T	XP_006724730.1:p.His1760Tyr
XM_006724668.2:c.5557C>T	XP_006724731.1:p.His1853Tyr
XM_006724668.3:c.5557C>T	XP_006724731.1:p.His1853Tyr
XM_017029601.2:c.5467C>T	XP_016885090.1:p.His1823Tyr
XM_017029602.1:c.5437C>T	XP_016885091.1:p.His1813Tyr
XM_017029603.1:c.5389C>T	XP_016885092.1:p.His1797Tyr
XM_017029604.2:c.5356C>T	XP_016885093.1:p.His1786Tyr
XM_017029605.1:c.5353C>T	XP_016885094.1:p.His1785Tyr
XM_017029606.2:c.5326C>T	XP_016885095.1:p.His1776Tyr
XM_017029607.2:c.5323C>T	XP_016885096.1:p.His1775Tyr
XM_017029608.2:c.5275C>T	XP_016885097.1:p.His1759Tyr
XM_017029609.1:c.5239C>T	XP_016885098.1:p.His1747Tyr
XM_017029610.1:c.5236C>T	XP_016885099.1:p.His1746Tyr
XM_017029611.1:c.5191C>T	XP_016885100.1:p.His1731Tyr
XR_001755700.2:n.5782C>T
XR_938400.1:n.5825C>T