Canonical Allele Identifier: CA10458096

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77682908C>G , CM000685.2:g.77682908C>G	GRCh38
NC_000023.10:g.76938400C>G , CM000685.1:g.76938400C>G	GRCh37
NC_000023.9:g.76825056C>G	NCBI36
NG_008838.2:g.108314G>C
NG_008838.3:g.108362G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.2348G>C MANE Select	NP_000480.3:p.Ser783Thr
ENST00000373344.11:c.2348G>C MANE Select	ENSP00000362441.4:p.Ser783Thr
NM_000489.4:c.2348G>C	NP_000480.3:p.Ser783Thr
NM_000489.5:c.2348G>C	NP_000480.3:p.Ser783Thr
NM_138270.3:c.2234G>C	NP_612114.2:p.Ser745Thr
NM_138270.4:c.2234G>C	NP_612114.2:p.Ser745Thr
NM_138270.5:c.2234G>C	NP_612114.2:p.Ser745Thr
ENST00000373344.9:c.2348G>C	ENSP00000362441.4:p.Ser783Thr
ENST00000395603.7:c.2234G>C	ENSP00000378967.3:p.Ser745Thr
ENST00000480283.5:c.*1976G>C	ENSP00000480196.1:n.*1976G>C
ENST00000624032.3:c.2261G>C	ENSP00000485253.1:p.Ser754Thr
ENST00000624166.3:c.2144G>C	ENSP00000485103.1:p.Ser715Thr
XM_005262153.3:c.2345G>C	XP_005262210.2:p.Ser782Thr
XM_005262153.5:c.2345G>C	XP_005262210.2:p.Ser782Thr
XM_005262154.3:c.2261G>C	XP_005262211.2:p.Ser754Thr
XM_005262154.5:c.2261G>C	XP_005262211.2:p.Ser754Thr
XM_005262155.3:c.2231G>C	XP_005262212.2:p.Ser744Thr
XM_005262155.4:c.2231G>C	XP_005262212.2:p.Ser744Thr
XM_005262156.3:c.2183G>C	XP_005262213.2:p.Ser728Thr
XM_005262156.4:c.2183G>C	XP_005262213.2:p.Ser728Thr
XM_005262157.3:c.2144G>C	XP_005262214.2:p.Ser715Thr
XM_005262157.5:c.2144G>C	XP_005262214.2:p.Ser715Thr
XM_006724666.2:c.2231G>C	XP_006724729.1:p.Ser744Thr
XM_006724666.4:c.2231G>C	XP_006724729.1:p.Ser744Thr
XM_006724667.2:c.2069G>C	XP_006724730.1:p.Ser690Thr
XM_006724667.3:c.2069G>C	XP_006724730.1:p.Ser690Thr
XM_006724668.2:c.2348G>C	XP_006724731.1:p.Ser783Thr
XM_006724668.3:c.2348G>C	XP_006724731.1:p.Ser783Thr
XM_017029601.2:c.2258G>C	XP_016885090.1:p.Ser753Thr
XM_017029602.1:c.2228G>C	XP_016885091.1:p.Ser743Thr
XM_017029603.1:c.2180G>C	XP_016885092.1:p.Ser727Thr
XM_017029604.2:c.2147G>C	XP_016885093.1:p.Ser716Thr
XM_017029605.1:c.2144G>C	XP_016885094.1:p.Ser715Thr
XM_017029606.2:c.2117G>C	XP_016885095.1:p.Ser706Thr
XM_017029607.2:c.2114G>C	XP_016885096.1:p.Ser705Thr
XM_017029608.2:c.2066G>C	XP_016885097.1:p.Ser689Thr
XM_017029609.1:c.2030G>C	XP_016885098.1:p.Ser677Thr
XM_017029610.1:c.2027G>C	XP_016885099.1:p.Ser676Thr
XM_017029611.1:c.1982G>C	XP_016885100.1:p.Ser661Thr
XR_001755700.2:n.2573G>C
XR_938400.1:n.2616G>C