Canonical Allele Identifier: CA413703549

Gene: ATRX

Linked Data

• dbSNP Id: rs2062756109
• MyVariant Identifiers: chrX:g.76763863T>C (hg19) ; chrX:g.77508385T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508385T>C , CM000685.2:g.77508385T>C	GRCh38
NC_000023.10:g.76763863T>C , CM000685.1:g.76763863T>C	GRCh37
NC_000023.9:g.76650519T>C	NCBI36
NG_008838.2:g.282837A>G
NG_008838.3:g.282885A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7445A>G MANE Select	ENSP00000362441.4:p.Lys2482Arg
ENST00000675732.1:c.2543A>G	ENSP00000502598.1:p.Lys848Arg
ENST00000373344.9:c.7445A>G	ENSP00000362441.4:p.Lys2482Arg
ENST00000395603.7:c.7331A>G	ENSP00000378967.3:p.Lys2444Arg
ENST00000480283.5:c.*7073A>G	ENSP00000480196.1:n.*7073A>G
ENST00000623706.3:n.5765A>G
NM_000489.4:c.7445A>G	NP_000480.3:p.Lys2482Arg
NM_138270.3:c.7331A>G	NP_612114.2:p.Lys2444Arg
XM_005262153.3:c.7442A>G	XP_005262210.2:p.Lys2481Arg
XM_005262154.3:c.7358A>G	XP_005262211.2:p.Lys2453Arg
XM_005262155.3:c.7328A>G	XP_005262212.2:p.Lys2443Arg
XM_005262156.3:c.7280A>G	XP_005262213.2:p.Lys2427Arg
XM_005262157.3:c.7241A>G	XP_005262214.2:p.Lys2414Arg
XM_006724666.2:c.7328A>G	XP_006724729.1:p.Lys2443Arg
XM_006724667.2:c.7166A>G	XP_006724730.1:p.Lys2389Arg
XR_938400.1:n.9037A>G
NM_000489.5:c.7445A>G	NP_000480.3:p.Lys2482Arg
XM_005262153.5:c.7442A>G	XP_005262210.2:p.Lys2481Arg
XM_005262154.5:c.7358A>G	XP_005262211.2:p.Lys2453Arg
XM_005262155.4:c.7328A>G	XP_005262212.2:p.Lys2443Arg
XM_005262156.4:c.7280A>G	XP_005262213.2:p.Lys2427Arg
XM_005262157.5:c.7241A>G	XP_005262214.2:p.Lys2414Arg
XM_006724666.4:c.7328A>G	XP_006724729.1:p.Lys2443Arg
XM_006724667.3:c.7166A>G	XP_006724730.1:p.Lys2389Arg
XM_017029601.2:c.7355A>G	XP_016885090.1:p.Lys2452Arg
XM_017029602.1:c.7325A>G	XP_016885091.1:p.Lys2442Arg
XM_017029603.1:c.7277A>G	XP_016885092.1:p.Lys2426Arg
XM_017029604.2:c.7244A>G	XP_016885093.1:p.Lys2415Arg
XM_017029605.1:c.7241A>G	XP_016885094.1:p.Lys2414Arg
XM_017029606.2:c.7214A>G	XP_016885095.1:p.Lys2405Arg
XM_017029607.2:c.7211A>G	XP_016885096.1:p.Lys2404Arg
XM_017029608.2:c.7163A>G	XP_016885097.1:p.Lys2388Arg
XM_017029609.1:c.7127A>G	XP_016885098.1:p.Lys2376Arg
XM_017029610.1:c.7124A>G	XP_016885099.1:p.Lys2375Arg
XM_017029611.1:c.7079A>G	XP_016885100.1:p.Lys2360Arg
XR_001755700.2:n.7744A>G
NM_138270.4:c.7331A>G	NP_612114.2:p.Lys2444Arg
NM_000489.6:c.7445A>G MANE Select	NP_000480.3:p.Lys2482Arg
NM_138270.5:c.7331A>G	NP_612114.2:p.Lys2444Arg