Canonical Allele Identifier: CA413712657

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77682927C>G , CM000685.2:g.77682927C>G	GRCh38
NC_000023.10:g.76938419C>G , CM000685.1:g.76938419C>G	GRCh37
NC_000023.9:g.76825075C>G	NCBI36
NG_008838.2:g.108295G>C
NG_008838.3:g.108343G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.2329G>C MANE Select	NP_000480.3:p.Gly777Arg
ENST00000373344.11:c.2329G>C MANE Select	ENSP00000362441.4:p.Gly777Arg
NM_000489.4:c.2329G>C	NP_000480.3:p.Gly777Arg
NM_000489.5:c.2329G>C	NP_000480.3:p.Gly777Arg
NM_138270.3:c.2215G>C	NP_612114.2:p.Gly739Arg
NM_138270.4:c.2215G>C	NP_612114.2:p.Gly739Arg
NM_138270.5:c.2215G>C	NP_612114.2:p.Gly739Arg
ENST00000373344.9:c.2329G>C	ENSP00000362441.4:p.Gly777Arg
ENST00000395603.7:c.2215G>C	ENSP00000378967.3:p.Gly739Arg
ENST00000480283.5:c.*1957G>C	ENSP00000480196.1:n.*1957G>C
ENST00000624032.3:c.2242G>C	ENSP00000485253.1:p.Gly748Arg
ENST00000624166.3:c.2125G>C	ENSP00000485103.1:p.Gly709Arg
XM_005262153.3:c.2326G>C	XP_005262210.2:p.Gly776Arg
XM_005262153.5:c.2326G>C	XP_005262210.2:p.Gly776Arg
XM_005262154.3:c.2242G>C	XP_005262211.2:p.Gly748Arg
XM_005262154.5:c.2242G>C	XP_005262211.2:p.Gly748Arg
XM_005262155.3:c.2212G>C	XP_005262212.2:p.Gly738Arg
XM_005262155.4:c.2212G>C	XP_005262212.2:p.Gly738Arg
XM_005262156.3:c.2164G>C	XP_005262213.2:p.Gly722Arg
XM_005262156.4:c.2164G>C	XP_005262213.2:p.Gly722Arg
XM_005262157.3:c.2125G>C	XP_005262214.2:p.Gly709Arg
XM_005262157.5:c.2125G>C	XP_005262214.2:p.Gly709Arg
XM_006724666.2:c.2212G>C	XP_006724729.1:p.Gly738Arg
XM_006724666.4:c.2212G>C	XP_006724729.1:p.Gly738Arg
XM_006724667.2:c.2050G>C	XP_006724730.1:p.Gly684Arg
XM_006724667.3:c.2050G>C	XP_006724730.1:p.Gly684Arg
XM_006724668.2:c.2329G>C	XP_006724731.1:p.Gly777Arg
XM_006724668.3:c.2329G>C	XP_006724731.1:p.Gly777Arg
XM_017029601.2:c.2239G>C	XP_016885090.1:p.Gly747Arg
XM_017029602.1:c.2209G>C	XP_016885091.1:p.Gly737Arg
XM_017029603.1:c.2161G>C	XP_016885092.1:p.Gly721Arg
XM_017029604.2:c.2128G>C	XP_016885093.1:p.Gly710Arg
XM_017029605.1:c.2125G>C	XP_016885094.1:p.Gly709Arg
XM_017029606.2:c.2098G>C	XP_016885095.1:p.Gly700Arg
XM_017029607.2:c.2095G>C	XP_016885096.1:p.Gly699Arg
XM_017029608.2:c.2047G>C	XP_016885097.1:p.Gly683Arg
XM_017029609.1:c.2011G>C	XP_016885098.1:p.Gly671Arg
XM_017029610.1:c.2008G>C	XP_016885099.1:p.Gly670Arg
XM_017029611.1:c.1963G>C	XP_016885100.1:p.Gly655Arg
XR_001755700.2:n.2554G>C
XR_938400.1:n.2597G>C