Canonical Allele Identifier: CA331568984

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77681607C>G , CM000685.2:g.77681607C>G	GRCh38
NC_000023.10:g.76937099C>G , CM000685.1:g.76937099C>G	GRCh37
NC_000023.9:g.76823755C>G	NCBI36
NG_008838.2:g.109615G>C
NG_008838.3:g.109663G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.3649G>C MANE Select	NP_000480.3:p.Gly1217Arg
ENST00000373344.11:c.3649G>C MANE Select	ENSP00000362441.4:p.Gly1217Arg
NM_000489.4:c.3649G>C	NP_000480.3:p.Gly1217Arg
NM_000489.5:c.3649G>C	NP_000480.3:p.Gly1217Arg
NM_138270.3:c.3535G>C	NP_612114.2:p.Gly1179Arg
NM_138270.4:c.3535G>C	NP_612114.2:p.Gly1179Arg
NM_138270.5:c.3535G>C	NP_612114.2:p.Gly1179Arg
ENST00000373344.9:c.3649G>C	ENSP00000362441.4:p.Gly1217Arg
ENST00000395603.7:c.3535G>C	ENSP00000378967.3:p.Gly1179Arg
ENST00000480283.5:c.*3277G>C	ENSP00000480196.1:n.*3277G>C
ENST00000493470.2:c.535G>C	ENSP00000485408.1:p.Gly179Arg
ENST00000624166.3:c.3445G>C	ENSP00000485103.1:p.Gly1149Arg
XM_005262153.3:c.3646G>C	XP_005262210.2:p.Gly1216Arg
XM_005262153.5:c.3646G>C	XP_005262210.2:p.Gly1216Arg
XM_005262154.3:c.3562G>C	XP_005262211.2:p.Gly1188Arg
XM_005262154.5:c.3562G>C	XP_005262211.2:p.Gly1188Arg
XM_005262155.3:c.3532G>C	XP_005262212.2:p.Gly1178Arg
XM_005262155.4:c.3532G>C	XP_005262212.2:p.Gly1178Arg
XM_005262156.3:c.3484G>C	XP_005262213.2:p.Gly1162Arg
XM_005262156.4:c.3484G>C	XP_005262213.2:p.Gly1162Arg
XM_005262157.3:c.3445G>C	XP_005262214.2:p.Gly1149Arg
XM_005262157.5:c.3445G>C	XP_005262214.2:p.Gly1149Arg
XM_006724666.2:c.3532G>C	XP_006724729.1:p.Gly1178Arg
XM_006724666.4:c.3532G>C	XP_006724729.1:p.Gly1178Arg
XM_006724667.2:c.3370G>C	XP_006724730.1:p.Gly1124Arg
XM_006724667.3:c.3370G>C	XP_006724730.1:p.Gly1124Arg
XM_006724668.2:c.3649G>C	XP_006724731.1:p.Gly1217Arg
XM_006724668.3:c.3649G>C	XP_006724731.1:p.Gly1217Arg
XM_017029601.2:c.3559G>C	XP_016885090.1:p.Gly1187Arg
XM_017029602.1:c.3529G>C	XP_016885091.1:p.Gly1177Arg
XM_017029603.1:c.3481G>C	XP_016885092.1:p.Gly1161Arg
XM_017029604.2:c.3448G>C	XP_016885093.1:p.Gly1150Arg
XM_017029605.1:c.3445G>C	XP_016885094.1:p.Gly1149Arg
XM_017029606.2:c.3418G>C	XP_016885095.1:p.Gly1140Arg
XM_017029607.2:c.3415G>C	XP_016885096.1:p.Gly1139Arg
XM_017029608.2:c.3367G>C	XP_016885097.1:p.Gly1123Arg
XM_017029609.1:c.3331G>C	XP_016885098.1:p.Gly1111Arg
XM_017029610.1:c.3328G>C	XP_016885099.1:p.Gly1110Arg
XM_017029611.1:c.3283G>C	XP_016885100.1:p.Gly1095Arg
XR_001755700.2:n.3874G>C
XR_938400.1:n.3917G>C