Canonical Allele Identifier: CA413703545

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763863T>A (hg19) ; chrX:g.77508385T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7445A>T MANE Select	ENSP00000362441.4:p.Lys2482Ile
ENST00000675732.1:c.2543A>T	ENSP00000502598.1:p.Lys848Ile
ENST00000373344.9:c.7445A>T	ENSP00000362441.4:p.Lys2482Ile
ENST00000395603.7:c.7331A>T	ENSP00000378967.3:p.Lys2444Ile
ENST00000480283.5:c.*7073A>T	ENSP00000480196.1:n.*7073A>T
ENST00000623706.3:n.5765A>T
NM_000489.4:c.7445A>T	NP_000480.3:p.Lys2482Ile
NM_138270.3:c.7331A>T	NP_612114.2:p.Lys2444Ile
XM_005262153.3:c.7442A>T	XP_005262210.2:p.Lys2481Ile
XM_005262154.3:c.7358A>T	XP_005262211.2:p.Lys2453Ile
XM_005262155.3:c.7328A>T	XP_005262212.2:p.Lys2443Ile
XM_005262156.3:c.7280A>T	XP_005262213.2:p.Lys2427Ile
XM_005262157.3:c.7241A>T	XP_005262214.2:p.Lys2414Ile
XM_006724666.2:c.7328A>T	XP_006724729.1:p.Lys2443Ile
XM_006724667.2:c.7166A>T	XP_006724730.1:p.Lys2389Ile
XR_938400.1:n.9037A>T
NM_000489.5:c.7445A>T	NP_000480.3:p.Lys2482Ile
XM_005262153.5:c.7442A>T	XP_005262210.2:p.Lys2481Ile
XM_005262154.5:c.7358A>T	XP_005262211.2:p.Lys2453Ile
XM_005262155.4:c.7328A>T	XP_005262212.2:p.Lys2443Ile
XM_005262156.4:c.7280A>T	XP_005262213.2:p.Lys2427Ile
XM_005262157.5:c.7241A>T	XP_005262214.2:p.Lys2414Ile
XM_006724666.4:c.7328A>T	XP_006724729.1:p.Lys2443Ile
XM_006724667.3:c.7166A>T	XP_006724730.1:p.Lys2389Ile
XM_017029601.2:c.7355A>T	XP_016885090.1:p.Lys2452Ile
XM_017029602.1:c.7325A>T	XP_016885091.1:p.Lys2442Ile
XM_017029603.1:c.7277A>T	XP_016885092.1:p.Lys2426Ile
XM_017029604.2:c.7244A>T	XP_016885093.1:p.Lys2415Ile
XM_017029605.1:c.7241A>T	XP_016885094.1:p.Lys2414Ile
XM_017029606.2:c.7214A>T	XP_016885095.1:p.Lys2405Ile
XM_017029607.2:c.7211A>T	XP_016885096.1:p.Lys2404Ile
XM_017029608.2:c.7163A>T	XP_016885097.1:p.Lys2388Ile
XM_017029609.1:c.7127A>T	XP_016885098.1:p.Lys2376Ile
XM_017029610.1:c.7124A>T	XP_016885099.1:p.Lys2375Ile
XM_017029611.1:c.7079A>T	XP_016885100.1:p.Lys2360Ile
XR_001755700.2:n.7744A>T
NM_138270.4:c.7331A>T	NP_612114.2:p.Lys2444Ile
NM_000489.6:c.7445A>T MANE Select	NP_000480.3:p.Lys2482Ile
NM_138270.5:c.7331A>T	NP_612114.2:p.Lys2444Ile