Canonical Allele Identifier: CA413706945

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77681971C>G , CM000685.2:g.77681971C>G	GRCh38
NC_000023.10:g.76937463C>G , CM000685.1:g.76937463C>G	GRCh37
NC_000023.9:g.76824119C>G	NCBI36
NG_008838.2:g.109251G>C
NG_008838.3:g.109299G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.3285G>C MANE Select	NP_000480.3:p.Lys1095Asn
ENST00000373344.11:c.3285G>C MANE Select	ENSP00000362441.4:p.Lys1095Asn
NM_000489.4:c.3285G>C	NP_000480.3:p.Lys1095Asn
NM_000489.5:c.3285G>C	NP_000480.3:p.Lys1095Asn
NM_138270.3:c.3171G>C	NP_612114.2:p.Lys1057Asn
NM_138270.4:c.3171G>C	NP_612114.2:p.Lys1057Asn
NM_138270.5:c.3171G>C	NP_612114.2:p.Lys1057Asn
ENST00000373344.9:c.3285G>C	ENSP00000362441.4:p.Lys1095Asn
ENST00000395603.7:c.3171G>C	ENSP00000378967.3:p.Lys1057Asn
ENST00000480283.5:c.*2913G>C	ENSP00000480196.1:n.*2913G>C
ENST00000493470.2:c.171G>C	ENSP00000485408.1:p.Lys57Asn
ENST00000624166.3:c.3081G>C	ENSP00000485103.1:p.Lys1027Asn
XM_005262153.3:c.3282G>C	XP_005262210.2:p.Lys1094Asn
XM_005262153.5:c.3282G>C	XP_005262210.2:p.Lys1094Asn
XM_005262154.3:c.3198G>C	XP_005262211.2:p.Lys1066Asn
XM_005262154.5:c.3198G>C	XP_005262211.2:p.Lys1066Asn
XM_005262155.3:c.3168G>C	XP_005262212.2:p.Lys1056Asn
XM_005262155.4:c.3168G>C	XP_005262212.2:p.Lys1056Asn
XM_005262156.3:c.3120G>C	XP_005262213.2:p.Lys1040Asn
XM_005262156.4:c.3120G>C	XP_005262213.2:p.Lys1040Asn
XM_005262157.3:c.3081G>C	XP_005262214.2:p.Lys1027Asn
XM_005262157.5:c.3081G>C	XP_005262214.2:p.Lys1027Asn
XM_006724666.2:c.3168G>C	XP_006724729.1:p.Lys1056Asn
XM_006724666.4:c.3168G>C	XP_006724729.1:p.Lys1056Asn
XM_006724667.2:c.3006G>C	XP_006724730.1:p.Lys1002Asn
XM_006724667.3:c.3006G>C	XP_006724730.1:p.Lys1002Asn
XM_006724668.2:c.3285G>C	XP_006724731.1:p.Lys1095Asn
XM_006724668.3:c.3285G>C	XP_006724731.1:p.Lys1095Asn
XM_017029601.2:c.3195G>C	XP_016885090.1:p.Lys1065Asn
XM_017029602.1:c.3165G>C	XP_016885091.1:p.Lys1055Asn
XM_017029603.1:c.3117G>C	XP_016885092.1:p.Lys1039Asn
XM_017029604.2:c.3084G>C	XP_016885093.1:p.Lys1028Asn
XM_017029605.1:c.3081G>C	XP_016885094.1:p.Lys1027Asn
XM_017029606.2:c.3054G>C	XP_016885095.1:p.Lys1018Asn
XM_017029607.2:c.3051G>C	XP_016885096.1:p.Lys1017Asn
XM_017029608.2:c.3003G>C	XP_016885097.1:p.Lys1001Asn
XM_017029609.1:c.2967G>C	XP_016885098.1:p.Lys989Asn
XM_017029610.1:c.2964G>C	XP_016885099.1:p.Lys988Asn
XM_017029611.1:c.2919G>C	XP_016885100.1:p.Lys973Asn
XR_001755700.2:n.3510G>C
XR_938400.1:n.3553G>C