Canonical Allele Identifier: CA413706198

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77681687C>G , CM000685.2:g.77681687C>G	GRCh38
NC_000023.10:g.76937179C>G , CM000685.1:g.76937179C>G	GRCh37
NC_000023.9:g.76823835C>G	NCBI36
NG_008838.2:g.109535G>C
NG_008838.3:g.109583G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.3569G>C MANE Select	NP_000480.3:p.Arg1190Thr
ENST00000373344.11:c.3569G>C MANE Select	ENSP00000362441.4:p.Arg1190Thr
NM_000489.4:c.3569G>C	NP_000480.3:p.Arg1190Thr
NM_000489.5:c.3569G>C	NP_000480.3:p.Arg1190Thr
NM_138270.3:c.3455G>C	NP_612114.2:p.Arg1152Thr
NM_138270.4:c.3455G>C	NP_612114.2:p.Arg1152Thr
NM_138270.5:c.3455G>C	NP_612114.2:p.Arg1152Thr
ENST00000373344.9:c.3569G>C	ENSP00000362441.4:p.Arg1190Thr
ENST00000395603.7:c.3455G>C	ENSP00000378967.3:p.Arg1152Thr
ENST00000480283.5:c.*3197G>C	ENSP00000480196.1:n.*3197G>C
ENST00000493470.2:c.455G>C	ENSP00000485408.1:p.Arg152Thr
ENST00000624166.3:c.3365G>C	ENSP00000485103.1:p.Arg1122Thr
XM_005262153.3:c.3566G>C	XP_005262210.2:p.Arg1189Thr
XM_005262153.5:c.3566G>C	XP_005262210.2:p.Arg1189Thr
XM_005262154.3:c.3482G>C	XP_005262211.2:p.Arg1161Thr
XM_005262154.5:c.3482G>C	XP_005262211.2:p.Arg1161Thr
XM_005262155.3:c.3452G>C	XP_005262212.2:p.Arg1151Thr
XM_005262155.4:c.3452G>C	XP_005262212.2:p.Arg1151Thr
XM_005262156.3:c.3404G>C	XP_005262213.2:p.Arg1135Thr
XM_005262156.4:c.3404G>C	XP_005262213.2:p.Arg1135Thr
XM_005262157.3:c.3365G>C	XP_005262214.2:p.Arg1122Thr
XM_005262157.5:c.3365G>C	XP_005262214.2:p.Arg1122Thr
XM_006724666.2:c.3452G>C	XP_006724729.1:p.Arg1151Thr
XM_006724666.4:c.3452G>C	XP_006724729.1:p.Arg1151Thr
XM_006724667.2:c.3290G>C	XP_006724730.1:p.Arg1097Thr
XM_006724667.3:c.3290G>C	XP_006724730.1:p.Arg1097Thr
XM_006724668.2:c.3569G>C	XP_006724731.1:p.Arg1190Thr
XM_006724668.3:c.3569G>C	XP_006724731.1:p.Arg1190Thr
XM_017029601.2:c.3479G>C	XP_016885090.1:p.Arg1160Thr
XM_017029602.1:c.3449G>C	XP_016885091.1:p.Arg1150Thr
XM_017029603.1:c.3401G>C	XP_016885092.1:p.Arg1134Thr
XM_017029604.2:c.3368G>C	XP_016885093.1:p.Arg1123Thr
XM_017029605.1:c.3365G>C	XP_016885094.1:p.Arg1122Thr
XM_017029606.2:c.3338G>C	XP_016885095.1:p.Arg1113Thr
XM_017029607.2:c.3335G>C	XP_016885096.1:p.Arg1112Thr
XM_017029608.2:c.3287G>C	XP_016885097.1:p.Arg1096Thr
XM_017029609.1:c.3251G>C	XP_016885098.1:p.Arg1084Thr
XM_017029610.1:c.3248G>C	XP_016885099.1:p.Arg1083Thr
XM_017029611.1:c.3203G>C	XP_016885100.1:p.Arg1068Thr
XR_001755700.2:n.3794G>C
XR_938400.1:n.3837G>C