Canonical Allele Identifier: CA413699560

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77663454C>G , CM000685.2:g.77663454C>G	GRCh38
NC_000023.10:g.76918943C>G , CM000685.1:g.76918943C>G	GRCh37
NC_000023.9:g.76805599C>G	NCBI36
NG_008838.2:g.127768G>C
NG_008838.3:g.127816G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.4048G>C MANE Select	NP_000480.3:p.Gly1350Arg
ENST00000373344.11:c.4048G>C MANE Select	ENSP00000362441.4:p.Gly1350Arg
NM_000489.4:c.4048G>C	NP_000480.3:p.Gly1350Arg
NM_000489.5:c.4048G>C	NP_000480.3:p.Gly1350Arg
NM_138270.3:c.3934G>C	NP_612114.2:p.Gly1312Arg
NM_138270.4:c.3934G>C	NP_612114.2:p.Gly1312Arg
NM_138270.5:c.3934G>C	NP_612114.2:p.Gly1312Arg
ENST00000373344.9:c.4048G>C	ENSP00000362441.4:p.Gly1350Arg
ENST00000395603.7:c.3934G>C	ENSP00000378967.3:p.Gly1312Arg
ENST00000480283.5:c.*3676G>C	ENSP00000480196.1:n.*3676G>C
ENST00000624166.3:c.3844G>C	ENSP00000485103.1:p.Gly1282Arg
XM_005262153.3:c.4045G>C	XP_005262210.2:p.Gly1349Arg
XM_005262153.5:c.4045G>C	XP_005262210.2:p.Gly1349Arg
XM_005262154.3:c.3961G>C	XP_005262211.2:p.Gly1321Arg
XM_005262154.5:c.3961G>C	XP_005262211.2:p.Gly1321Arg
XM_005262155.3:c.3931G>C	XP_005262212.2:p.Gly1311Arg
XM_005262155.4:c.3931G>C	XP_005262212.2:p.Gly1311Arg
XM_005262156.3:c.3883G>C	XP_005262213.2:p.Gly1295Arg
XM_005262156.4:c.3883G>C	XP_005262213.2:p.Gly1295Arg
XM_005262157.3:c.3844G>C	XP_005262214.2:p.Gly1282Arg
XM_005262157.5:c.3844G>C	XP_005262214.2:p.Gly1282Arg
XM_006724666.2:c.3931G>C	XP_006724729.1:p.Gly1311Arg
XM_006724666.4:c.3931G>C	XP_006724729.1:p.Gly1311Arg
XM_006724667.2:c.3769G>C	XP_006724730.1:p.Gly1257Arg
XM_006724667.3:c.3769G>C	XP_006724730.1:p.Gly1257Arg
XM_006724668.2:c.4048G>C	XP_006724731.1:p.Gly1350Arg
XM_006724668.3:c.4048G>C	XP_006724731.1:p.Gly1350Arg
XM_017029601.2:c.3958G>C	XP_016885090.1:p.Gly1320Arg
XM_017029602.1:c.3928G>C	XP_016885091.1:p.Gly1310Arg
XM_017029603.1:c.3880G>C	XP_016885092.1:p.Gly1294Arg
XM_017029604.2:c.3847G>C	XP_016885093.1:p.Gly1283Arg
XM_017029605.1:c.3844G>C	XP_016885094.1:p.Gly1282Arg
XM_017029606.2:c.3817G>C	XP_016885095.1:p.Gly1273Arg
XM_017029607.2:c.3814G>C	XP_016885096.1:p.Gly1272Arg
XM_017029608.2:c.3766G>C	XP_016885097.1:p.Gly1256Arg
XM_017029609.1:c.3730G>C	XP_016885098.1:p.Gly1244Arg
XM_017029610.1:c.3727G>C	XP_016885099.1:p.Gly1243Arg
XM_017029611.1:c.3682G>C	XP_016885100.1:p.Gly1228Arg
XR_001755700.2:n.4273G>C
XR_938400.1:n.4316G>C