Canonical Allele Identifier: CA10458044

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77682564C>G , CM000685.2:g.77682564C>G	GRCh38
NC_000023.10:g.76938056C>G , CM000685.1:g.76938056C>G	GRCh37
NC_000023.9:g.76824712C>G	NCBI36
NG_008838.2:g.108658G>C
NG_008838.3:g.108706G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.2692G>C MANE Select	NP_000480.3:p.Asp898His
ENST00000373344.11:c.2692G>C MANE Select	ENSP00000362441.4:p.Asp898His
NM_000489.4:c.2692G>C	NP_000480.3:p.Asp898His
NM_000489.5:c.2692G>C	NP_000480.3:p.Asp898His
NM_138270.3:c.2578G>C	NP_612114.2:p.Asp860His
NM_138270.4:c.2578G>C	NP_612114.2:p.Asp860His
NM_138270.5:c.2578G>C	NP_612114.2:p.Asp860His
ENST00000373344.9:c.2692G>C	ENSP00000362441.4:p.Asp898His
ENST00000395603.7:c.2578G>C	ENSP00000378967.3:p.Asp860His
ENST00000480283.5:c.*2320G>C	ENSP00000480196.1:n.*2320G>C
ENST00000624032.3:c.2605G>C	ENSP00000485253.1:p.Asp869His
ENST00000624166.3:c.2488G>C	ENSP00000485103.1:p.Asp830His
XM_005262153.3:c.2689G>C	XP_005262210.2:p.Asp897His
XM_005262153.5:c.2689G>C	XP_005262210.2:p.Asp897His
XM_005262154.3:c.2605G>C	XP_005262211.2:p.Asp869His
XM_005262154.5:c.2605G>C	XP_005262211.2:p.Asp869His
XM_005262155.3:c.2575G>C	XP_005262212.2:p.Asp859His
XM_005262155.4:c.2575G>C	XP_005262212.2:p.Asp859His
XM_005262156.3:c.2527G>C	XP_005262213.2:p.Asp843His
XM_005262156.4:c.2527G>C	XP_005262213.2:p.Asp843His
XM_005262157.3:c.2488G>C	XP_005262214.2:p.Asp830His
XM_005262157.5:c.2488G>C	XP_005262214.2:p.Asp830His
XM_006724666.2:c.2575G>C	XP_006724729.1:p.Asp859His
XM_006724666.4:c.2575G>C	XP_006724729.1:p.Asp859His
XM_006724667.2:c.2413G>C	XP_006724730.1:p.Asp805His
XM_006724667.3:c.2413G>C	XP_006724730.1:p.Asp805His
XM_006724668.2:c.2692G>C	XP_006724731.1:p.Asp898His
XM_006724668.3:c.2692G>C	XP_006724731.1:p.Asp898His
XM_017029601.2:c.2602G>C	XP_016885090.1:p.Asp868His
XM_017029602.1:c.2572G>C	XP_016885091.1:p.Asp858His
XM_017029603.1:c.2524G>C	XP_016885092.1:p.Asp842His
XM_017029604.2:c.2491G>C	XP_016885093.1:p.Asp831His
XM_017029605.1:c.2488G>C	XP_016885094.1:p.Asp830His
XM_017029606.2:c.2461G>C	XP_016885095.1:p.Asp821His
XM_017029607.2:c.2458G>C	XP_016885096.1:p.Asp820His
XM_017029608.2:c.2410G>C	XP_016885097.1:p.Asp804His
XM_017029609.1:c.2374G>C	XP_016885098.1:p.Asp792His
XM_017029610.1:c.2371G>C	XP_016885099.1:p.Asp791His
XM_017029611.1:c.2326G>C	XP_016885100.1:p.Asp776His
XR_001755700.2:n.2917G>C
XR_938400.1:n.2960G>C