Canonical Allele Identifier: CA10458065

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77682683T>C , CM000685.2:g.77682683T>C	GRCh38
NC_000023.10:g.76938175T>C , CM000685.1:g.76938175T>C	GRCh37
NC_000023.9:g.76824831T>C	NCBI36
NG_008838.2:g.108539A>G
NG_008838.3:g.108587A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.2573A>G MANE Select	NP_000480.3:p.Lys858Arg
ENST00000373344.11:c.2573A>G MANE Select	ENSP00000362441.4:p.Lys858Arg
NM_000489.4:c.2573A>G	NP_000480.3:p.Lys858Arg
NM_000489.5:c.2573A>G	NP_000480.3:p.Lys858Arg
NM_138270.3:c.2459A>G	NP_612114.2:p.Lys820Arg
NM_138270.4:c.2459A>G	NP_612114.2:p.Lys820Arg
NM_138270.5:c.2459A>G	NP_612114.2:p.Lys820Arg
ENST00000373344.9:c.2573A>G	ENSP00000362441.4:p.Lys858Arg
ENST00000395603.7:c.2459A>G	ENSP00000378967.3:p.Lys820Arg
ENST00000480283.5:c.*2201A>G	ENSP00000480196.1:n.*2201A>G
ENST00000624032.3:c.2486A>G	ENSP00000485253.1:p.Lys829Arg
ENST00000624166.3:c.2369A>G	ENSP00000485103.1:p.Lys790Arg
XM_005262153.3:c.2570A>G	XP_005262210.2:p.Lys857Arg
XM_005262153.5:c.2570A>G	XP_005262210.2:p.Lys857Arg
XM_005262154.3:c.2486A>G	XP_005262211.2:p.Lys829Arg
XM_005262154.5:c.2486A>G	XP_005262211.2:p.Lys829Arg
XM_005262155.3:c.2456A>G	XP_005262212.2:p.Lys819Arg
XM_005262155.4:c.2456A>G	XP_005262212.2:p.Lys819Arg
XM_005262156.3:c.2408A>G	XP_005262213.2:p.Lys803Arg
XM_005262156.4:c.2408A>G	XP_005262213.2:p.Lys803Arg
XM_005262157.3:c.2369A>G	XP_005262214.2:p.Lys790Arg
XM_005262157.5:c.2369A>G	XP_005262214.2:p.Lys790Arg
XM_006724666.2:c.2456A>G	XP_006724729.1:p.Lys819Arg
XM_006724666.4:c.2456A>G	XP_006724729.1:p.Lys819Arg
XM_006724667.2:c.2294A>G	XP_006724730.1:p.Lys765Arg
XM_006724667.3:c.2294A>G	XP_006724730.1:p.Lys765Arg
XM_006724668.2:c.2573A>G	XP_006724731.1:p.Lys858Arg
XM_006724668.3:c.2573A>G	XP_006724731.1:p.Lys858Arg
XM_017029601.2:c.2483A>G	XP_016885090.1:p.Lys828Arg
XM_017029602.1:c.2453A>G	XP_016885091.1:p.Lys818Arg
XM_017029603.1:c.2405A>G	XP_016885092.1:p.Lys802Arg
XM_017029604.2:c.2372A>G	XP_016885093.1:p.Lys791Arg
XM_017029605.1:c.2369A>G	XP_016885094.1:p.Lys790Arg
XM_017029606.2:c.2342A>G	XP_016885095.1:p.Lys781Arg
XM_017029607.2:c.2339A>G	XP_016885096.1:p.Lys780Arg
XM_017029608.2:c.2291A>G	XP_016885097.1:p.Lys764Arg
XM_017029609.1:c.2255A>G	XP_016885098.1:p.Lys752Arg
XM_017029610.1:c.2252A>G	XP_016885099.1:p.Lys751Arg
XM_017029611.1:c.2207A>G	XP_016885100.1:p.Lys736Arg
XR_001755700.2:n.2798A>G
XR_938400.1:n.2841A>G