Canonical Allele Identifier: CA413715204

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77683296G>A , CM000685.2:g.77683296G>A	GRCh38
NC_000023.10:g.76938788G>A , CM000685.1:g.76938788G>A	GRCh37
NC_000023.9:g.76825444G>A	NCBI36
NG_008838.2:g.107926C>T
NG_008838.3:g.107974C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.1960C>T MANE Select	NP_000480.3:p.Arg654Ter
ENST00000373344.11:c.1960C>T MANE Select	ENSP00000362441.4:p.Arg654Ter
NM_000489.4:c.1960C>T	NP_000480.3:p.Arg654Ter
NM_000489.5:c.1960C>T	NP_000480.3:p.Arg654Ter
NM_138270.3:c.1846C>T	NP_612114.2:p.Arg616Ter
NM_138270.4:c.1846C>T	NP_612114.2:p.Arg616Ter
NM_138270.5:c.1846C>T	NP_612114.2:p.Arg616Ter
ENST00000373344.9:c.1960C>T	ENSP00000362441.4:p.Arg654Ter
ENST00000395603.7:c.1846C>T	ENSP00000378967.3:p.Arg616Ter
ENST00000480283.5:c.*1588C>T	ENSP00000480196.1:n.*1588C>T
ENST00000624032.3:c.1873C>T	ENSP00000485253.1:p.Arg625Ter
ENST00000624166.3:c.1756C>T	ENSP00000485103.1:p.Arg586Ter
XM_005262153.3:c.1957C>T	XP_005262210.2:p.Arg653Ter
XM_005262153.5:c.1957C>T	XP_005262210.2:p.Arg653Ter
XM_005262154.3:c.1873C>T	XP_005262211.2:p.Arg625Ter
XM_005262154.5:c.1873C>T	XP_005262211.2:p.Arg625Ter
XM_005262155.3:c.1843C>T	XP_005262212.2:p.Arg615Ter
XM_005262155.4:c.1843C>T	XP_005262212.2:p.Arg615Ter
XM_005262156.3:c.1795C>T	XP_005262213.2:p.Arg599Ter
XM_005262156.4:c.1795C>T	XP_005262213.2:p.Arg599Ter
XM_005262157.3:c.1756C>T	XP_005262214.2:p.Arg586Ter
XM_005262157.5:c.1756C>T	XP_005262214.2:p.Arg586Ter
XM_006724666.2:c.1843C>T	XP_006724729.1:p.Arg615Ter
XM_006724666.4:c.1843C>T	XP_006724729.1:p.Arg615Ter
XM_006724667.2:c.1681C>T	XP_006724730.1:p.Arg561Ter
XM_006724667.3:c.1681C>T	XP_006724730.1:p.Arg561Ter
XM_006724668.2:c.1960C>T	XP_006724731.1:p.Arg654Ter
XM_006724668.3:c.1960C>T	XP_006724731.1:p.Arg654Ter
XM_017029601.2:c.1870C>T	XP_016885090.1:p.Arg624Ter
XM_017029602.1:c.1840C>T	XP_016885091.1:p.Arg614Ter
XM_017029603.1:c.1792C>T	XP_016885092.1:p.Arg598Ter
XM_017029604.2:c.1759C>T	XP_016885093.1:p.Arg587Ter
XM_017029605.1:c.1756C>T	XP_016885094.1:p.Arg586Ter
XM_017029606.2:c.1729C>T	XP_016885095.1:p.Arg577Ter
XM_017029607.2:c.1726C>T	XP_016885096.1:p.Arg576Ter
XM_017029608.2:c.1678C>T	XP_016885097.1:p.Arg560Ter
XM_017029609.1:c.1642C>T	XP_016885098.1:p.Arg548Ter
XM_017029610.1:c.1639C>T	XP_016885099.1:p.Arg547Ter
XM_017029611.1:c.1594C>T	XP_016885100.1:p.Arg532Ter
XR_001755700.2:n.2185C>T
XR_938400.1:n.2228C>T