Canonical Allele Identifier: CA413719166

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77684070T>G , CM000685.2:g.77684070T>G	GRCh38
NC_000023.10:g.76939562T>G , CM000685.1:g.76939562T>G	GRCh37
NC_000023.9:g.76826218T>G	NCBI36
NG_008838.2:g.107152A>C
NG_008838.3:g.107200A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.1186A>C MANE Select	NP_000480.3:p.Lys396Gln
ENST00000373344.11:c.1186A>C MANE Select	ENSP00000362441.4:p.Lys396Gln
NM_000489.4:c.1186A>C	NP_000480.3:p.Lys396Gln
NM_000489.5:c.1186A>C	NP_000480.3:p.Lys396Gln
NM_138270.3:c.1072A>C	NP_612114.2:p.Lys358Gln
NM_138270.4:c.1072A>C	NP_612114.2:p.Lys358Gln
NM_138270.5:c.1072A>C	NP_612114.2:p.Lys358Gln
ENST00000373344.9:c.1186A>C	ENSP00000362441.4:p.Lys396Gln
ENST00000395603.7:c.1072A>C	ENSP00000378967.3:p.Lys358Gln
ENST00000480283.5:c.*814A>C	ENSP00000480196.1:n.*814A>C
ENST00000623321.3:c.1021A>C	ENSP00000485127.1:p.Lys341Gln
ENST00000624032.3:c.1186A>C	ENSP00000485253.1:p.Lys396Gln
ENST00000624166.3:c.1069A>C	ENSP00000485103.1:p.Lys357Gln
XM_005262153.3:c.1183A>C	XP_005262210.2:p.Lys395Gln
XM_005262153.5:c.1183A>C	XP_005262210.2:p.Lys395Gln
XM_005262154.3:c.1186A>C	XP_005262211.2:p.Lys396Gln
XM_005262154.5:c.1186A>C	XP_005262211.2:p.Lys396Gln
XM_005262155.3:c.1069A>C	XP_005262212.2:p.Lys357Gln
XM_005262155.4:c.1069A>C	XP_005262212.2:p.Lys357Gln
XM_005262156.3:c.1021A>C	XP_005262213.2:p.Lys341Gln
XM_005262156.4:c.1021A>C	XP_005262213.2:p.Lys341Gln
XM_005262157.3:c.1069A>C	XP_005262214.2:p.Lys357Gln
XM_005262157.5:c.1069A>C	XP_005262214.2:p.Lys357Gln
XM_006724666.2:c.1069A>C	XP_006724729.1:p.Lys357Gln
XM_006724666.4:c.1069A>C	XP_006724729.1:p.Lys357Gln
XM_006724667.2:c.907A>C	XP_006724730.1:p.Lys303Gln
XM_006724667.3:c.907A>C	XP_006724730.1:p.Lys303Gln
XM_006724668.2:c.1186A>C	XP_006724731.1:p.Lys396Gln
XM_006724668.3:c.1186A>C	XP_006724731.1:p.Lys396Gln
XM_017029601.2:c.1183A>C	XP_016885090.1:p.Lys395Gln
XM_017029602.1:c.1066A>C	XP_016885091.1:p.Lys356Gln
XM_017029603.1:c.1018A>C	XP_016885092.1:p.Lys340Gln
XM_017029604.2:c.1072A>C	XP_016885093.1:p.Lys358Gln
XM_017029605.1:c.1069A>C	XP_016885094.1:p.Lys357Gln
XM_017029606.2:c.955A>C	XP_016885095.1:p.Lys319Gln
XM_017029607.2:c.952A>C	XP_016885096.1:p.Lys318Gln
XM_017029608.2:c.904A>C	XP_016885097.1:p.Lys302Gln
XM_017029609.1:c.955A>C	XP_016885098.1:p.Lys319Gln
XM_017029610.1:c.952A>C	XP_016885099.1:p.Lys318Gln
XM_017029611.1:c.907A>C	XP_016885100.1:p.Lys303Gln
XR_001755700.2:n.1411A>C
XR_938400.1:n.1454A>C