Canonical Allele Identifier: CA10458010

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77682285C>G , CM000685.2:g.77682285C>G	GRCh38
NC_000023.10:g.76937777C>G , CM000685.1:g.76937777C>G	GRCh37
NC_000023.9:g.76824433C>G	NCBI36
NG_008838.2:g.108937G>C
NG_008838.3:g.108985G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.2971G>C MANE Select	NP_000480.3:p.Glu991Gln
ENST00000373344.11:c.2971G>C MANE Select	ENSP00000362441.4:p.Glu991Gln
NM_000489.4:c.2971G>C	NP_000480.3:p.Glu991Gln
NM_000489.5:c.2971G>C	NP_000480.3:p.Glu991Gln
NM_138270.3:c.2857G>C	NP_612114.2:p.Glu953Gln
NM_138270.4:c.2857G>C	NP_612114.2:p.Glu953Gln
NM_138270.5:c.2857G>C	NP_612114.2:p.Glu953Gln
ENST00000373344.9:c.2971G>C	ENSP00000362441.4:p.Glu991Gln
ENST00000395603.7:c.2857G>C	ENSP00000378967.3:p.Glu953Gln
ENST00000480283.5:c.*2599G>C	ENSP00000480196.1:n.*2599G>C
ENST00000624166.3:c.2767G>C	ENSP00000485103.1:p.Glu923Gln
XM_005262153.3:c.2968G>C	XP_005262210.2:p.Glu990Gln
XM_005262153.5:c.2968G>C	XP_005262210.2:p.Glu990Gln
XM_005262154.3:c.2884G>C	XP_005262211.2:p.Glu962Gln
XM_005262154.5:c.2884G>C	XP_005262211.2:p.Glu962Gln
XM_005262155.3:c.2854G>C	XP_005262212.2:p.Glu952Gln
XM_005262155.4:c.2854G>C	XP_005262212.2:p.Glu952Gln
XM_005262156.3:c.2806G>C	XP_005262213.2:p.Glu936Gln
XM_005262156.4:c.2806G>C	XP_005262213.2:p.Glu936Gln
XM_005262157.3:c.2767G>C	XP_005262214.2:p.Glu923Gln
XM_005262157.5:c.2767G>C	XP_005262214.2:p.Glu923Gln
XM_006724666.2:c.2854G>C	XP_006724729.1:p.Glu952Gln
XM_006724666.4:c.2854G>C	XP_006724729.1:p.Glu952Gln
XM_006724667.2:c.2692G>C	XP_006724730.1:p.Glu898Gln
XM_006724667.3:c.2692G>C	XP_006724730.1:p.Glu898Gln
XM_006724668.2:c.2971G>C	XP_006724731.1:p.Glu991Gln
XM_006724668.3:c.2971G>C	XP_006724731.1:p.Glu991Gln
XM_017029601.2:c.2881G>C	XP_016885090.1:p.Glu961Gln
XM_017029602.1:c.2851G>C	XP_016885091.1:p.Glu951Gln
XM_017029603.1:c.2803G>C	XP_016885092.1:p.Glu935Gln
XM_017029604.2:c.2770G>C	XP_016885093.1:p.Glu924Gln
XM_017029605.1:c.2767G>C	XP_016885094.1:p.Glu923Gln
XM_017029606.2:c.2740G>C	XP_016885095.1:p.Glu914Gln
XM_017029607.2:c.2737G>C	XP_016885096.1:p.Glu913Gln
XM_017029608.2:c.2689G>C	XP_016885097.1:p.Glu897Gln
XM_017029609.1:c.2653G>C	XP_016885098.1:p.Glu885Gln
XM_017029610.1:c.2650G>C	XP_016885099.1:p.Glu884Gln
XM_017029611.1:c.2605G>C	XP_016885100.1:p.Glu869Gln
XR_001755700.2:n.3196G>C
XR_938400.1:n.3239G>C