Canonical Allele Identifier: CA413712627

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77682914C>T , CM000685.2:g.77682914C>T	GRCh38
NC_000023.10:g.76938406C>T , CM000685.1:g.76938406C>T	GRCh37
NC_000023.9:g.76825062C>T	NCBI36
NG_008838.2:g.108308G>A
NG_008838.3:g.108356G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.2342G>A MANE Select	NP_000480.3:p.Arg781Gln
ENST00000373344.11:c.2342G>A MANE Select	ENSP00000362441.4:p.Arg781Gln
NM_000489.4:c.2342G>A	NP_000480.3:p.Arg781Gln
NM_000489.5:c.2342G>A	NP_000480.3:p.Arg781Gln
NM_138270.3:c.2228G>A	NP_612114.2:p.Arg743Gln
NM_138270.4:c.2228G>A	NP_612114.2:p.Arg743Gln
NM_138270.5:c.2228G>A	NP_612114.2:p.Arg743Gln
ENST00000373344.9:c.2342G>A	ENSP00000362441.4:p.Arg781Gln
ENST00000395603.7:c.2228G>A	ENSP00000378967.3:p.Arg743Gln
ENST00000480283.5:c.*1970G>A	ENSP00000480196.1:n.*1970G>A
ENST00000624032.3:c.2255G>A	ENSP00000485253.1:p.Arg752Gln
ENST00000624166.3:c.2138G>A	ENSP00000485103.1:p.Arg713Gln
XM_005262153.3:c.2339G>A	XP_005262210.2:p.Arg780Gln
XM_005262153.5:c.2339G>A	XP_005262210.2:p.Arg780Gln
XM_005262154.3:c.2255G>A	XP_005262211.2:p.Arg752Gln
XM_005262154.5:c.2255G>A	XP_005262211.2:p.Arg752Gln
XM_005262155.3:c.2225G>A	XP_005262212.2:p.Arg742Gln
XM_005262155.4:c.2225G>A	XP_005262212.2:p.Arg742Gln
XM_005262156.3:c.2177G>A	XP_005262213.2:p.Arg726Gln
XM_005262156.4:c.2177G>A	XP_005262213.2:p.Arg726Gln
XM_005262157.3:c.2138G>A	XP_005262214.2:p.Arg713Gln
XM_005262157.5:c.2138G>A	XP_005262214.2:p.Arg713Gln
XM_006724666.2:c.2225G>A	XP_006724729.1:p.Arg742Gln
XM_006724666.4:c.2225G>A	XP_006724729.1:p.Arg742Gln
XM_006724667.2:c.2063G>A	XP_006724730.1:p.Arg688Gln
XM_006724667.3:c.2063G>A	XP_006724730.1:p.Arg688Gln
XM_006724668.2:c.2342G>A	XP_006724731.1:p.Arg781Gln
XM_006724668.3:c.2342G>A	XP_006724731.1:p.Arg781Gln
XM_017029601.2:c.2252G>A	XP_016885090.1:p.Arg751Gln
XM_017029602.1:c.2222G>A	XP_016885091.1:p.Arg741Gln
XM_017029603.1:c.2174G>A	XP_016885092.1:p.Arg725Gln
XM_017029604.2:c.2141G>A	XP_016885093.1:p.Arg714Gln
XM_017029605.1:c.2138G>A	XP_016885094.1:p.Arg713Gln
XM_017029606.2:c.2111G>A	XP_016885095.1:p.Arg704Gln
XM_017029607.2:c.2108G>A	XP_016885096.1:p.Arg703Gln
XM_017029608.2:c.2060G>A	XP_016885097.1:p.Arg687Gln
XM_017029609.1:c.2024G>A	XP_016885098.1:p.Arg675Gln
XM_017029610.1:c.2021G>A	XP_016885099.1:p.Arg674Gln
XM_017029611.1:c.1976G>A	XP_016885100.1:p.Arg659Gln
XR_001755700.2:n.2567G>A
XR_938400.1:n.2610G>A