Canonical Allele Identifier: CA413720731

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77684498A>G , CM000685.2:g.77684498A>G	GRCh38
NC_000023.10:g.76939990A>G , CM000685.1:g.76939990A>G	GRCh37
NC_000023.9:g.76826646A>G	NCBI36
NG_008838.2:g.106724T>C
NG_008838.3:g.106772T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.758T>C MANE Select	NP_000480.3:p.Leu253Ser
ENST00000373344.11:c.758T>C MANE Select	ENSP00000362441.4:p.Leu253Ser
NM_000489.4:c.758T>C	NP_000480.3:p.Leu253Ser
NM_000489.5:c.758T>C	NP_000480.3:p.Leu253Ser
NM_138270.3:c.644T>C	NP_612114.2:p.Leu215Ser
NM_138270.4:c.644T>C	NP_612114.2:p.Leu215Ser
NM_138270.5:c.644T>C	NP_612114.2:p.Leu215Ser
ENST00000373344.9:c.758T>C	ENSP00000362441.4:p.Leu253Ser
ENST00000395603.7:c.644T>C	ENSP00000378967.3:p.Leu215Ser
ENST00000480283.5:c.*386T>C	ENSP00000480196.1:n.*386T>C
ENST00000623321.3:c.593T>C	ENSP00000485127.1:p.Leu198Ser
ENST00000624032.3:c.758T>C	ENSP00000485253.1:p.Leu253Ser
ENST00000624166.3:c.641T>C	ENSP00000485103.1:p.Leu214Ser
ENST00000625063.3:c.573T>C
XM_005262153.3:c.755T>C	XP_005262210.2:p.Leu252Ser
XM_005262153.5:c.755T>C	XP_005262210.2:p.Leu252Ser
XM_005262154.3:c.758T>C	XP_005262211.2:p.Leu253Ser
XM_005262154.5:c.758T>C	XP_005262211.2:p.Leu253Ser
XM_005262155.3:c.641T>C	XP_005262212.2:p.Leu214Ser
XM_005262155.4:c.641T>C	XP_005262212.2:p.Leu214Ser
XM_005262156.3:c.593T>C	XP_005262213.2:p.Leu198Ser
XM_005262156.4:c.593T>C	XP_005262213.2:p.Leu198Ser
XM_005262157.3:c.641T>C	XP_005262214.2:p.Leu214Ser
XM_005262157.5:c.641T>C	XP_005262214.2:p.Leu214Ser
XM_006724666.2:c.641T>C	XP_006724729.1:p.Leu214Ser
XM_006724666.4:c.641T>C	XP_006724729.1:p.Leu214Ser
XM_006724667.2:c.479T>C	XP_006724730.1:p.Leu160Ser
XM_006724667.3:c.479T>C	XP_006724730.1:p.Leu160Ser
XM_006724668.2:c.758T>C	XP_006724731.1:p.Leu253Ser
XM_006724668.3:c.758T>C	XP_006724731.1:p.Leu253Ser
XM_017029601.2:c.755T>C	XP_016885090.1:p.Leu252Ser
XM_017029602.1:c.638T>C	XP_016885091.1:p.Leu213Ser
XM_017029603.1:c.590T>C	XP_016885092.1:p.Leu197Ser
XM_017029604.2:c.644T>C	XP_016885093.1:p.Leu215Ser
XM_017029605.1:c.641T>C	XP_016885094.1:p.Leu214Ser
XM_017029606.2:c.527T>C	XP_016885095.1:p.Leu176Ser
XM_017029607.2:c.524T>C	XP_016885096.1:p.Leu175Ser
XM_017029608.2:c.476T>C	XP_016885097.1:p.Leu159Ser
XM_017029609.1:c.527T>C	XP_016885098.1:p.Leu176Ser
XM_017029610.1:c.524T>C	XP_016885099.1:p.Leu175Ser
XM_017029611.1:c.479T>C	XP_016885100.1:p.Leu160Ser
XR_001755700.2:n.983T>C
XR_938400.1:n.1026T>C