Canonical Allele Identifier: CA413703553

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763864T>A (hg19) ; chrX:g.77508386T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508386T>A , CM000685.2:g.77508386T>A	GRCh38
NC_000023.10:g.76763864T>A , CM000685.1:g.76763864T>A	GRCh37
NC_000023.9:g.76650520T>A	NCBI36
NG_008838.2:g.282836A>T
NG_008838.3:g.282884A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7444A>T MANE Select	ENSP00000362441.4:p.Lys2482Ter
ENST00000675732.1:c.2542A>T	ENSP00000502598.1:p.Lys848Ter
ENST00000373344.9:c.7444A>T	ENSP00000362441.4:p.Lys2482Ter
ENST00000395603.7:c.7330A>T	ENSP00000378967.3:p.Lys2444Ter
ENST00000480283.5:c.*7072A>T	ENSP00000480196.1:n.*7072A>T
ENST00000623706.3:n.5764A>T
NM_000489.4:c.7444A>T	NP_000480.3:p.Lys2482Ter
NM_138270.3:c.7330A>T	NP_612114.2:p.Lys2444Ter
XM_005262153.3:c.7441A>T	XP_005262210.2:p.Lys2481Ter
XM_005262154.3:c.7357A>T	XP_005262211.2:p.Lys2453Ter
XM_005262155.3:c.7327A>T	XP_005262212.2:p.Lys2443Ter
XM_005262156.3:c.7279A>T	XP_005262213.2:p.Lys2427Ter
XM_005262157.3:c.7240A>T	XP_005262214.2:p.Lys2414Ter
XM_006724666.2:c.7327A>T	XP_006724729.1:p.Lys2443Ter
XM_006724667.2:c.7165A>T	XP_006724730.1:p.Lys2389Ter
XR_938400.1:n.9036A>T
NM_000489.5:c.7444A>T	NP_000480.3:p.Lys2482Ter
XM_005262153.5:c.7441A>T	XP_005262210.2:p.Lys2481Ter
XM_005262154.5:c.7357A>T	XP_005262211.2:p.Lys2453Ter
XM_005262155.4:c.7327A>T	XP_005262212.2:p.Lys2443Ter
XM_005262156.4:c.7279A>T	XP_005262213.2:p.Lys2427Ter
XM_005262157.5:c.7240A>T	XP_005262214.2:p.Lys2414Ter
XM_006724666.4:c.7327A>T	XP_006724729.1:p.Lys2443Ter
XM_006724667.3:c.7165A>T	XP_006724730.1:p.Lys2389Ter
XM_017029601.2:c.7354A>T	XP_016885090.1:p.Lys2452Ter
XM_017029602.1:c.7324A>T	XP_016885091.1:p.Lys2442Ter
XM_017029603.1:c.7276A>T	XP_016885092.1:p.Lys2426Ter
XM_017029604.2:c.7243A>T	XP_016885093.1:p.Lys2415Ter
XM_017029605.1:c.7240A>T	XP_016885094.1:p.Lys2414Ter
XM_017029606.2:c.7213A>T	XP_016885095.1:p.Lys2405Ter
XM_017029607.2:c.7210A>T	XP_016885096.1:p.Lys2404Ter
XM_017029608.2:c.7162A>T	XP_016885097.1:p.Lys2388Ter
XM_017029609.1:c.7126A>T	XP_016885098.1:p.Lys2376Ter
XM_017029610.1:c.7123A>T	XP_016885099.1:p.Lys2375Ter
XM_017029611.1:c.7078A>T	XP_016885100.1:p.Lys2360Ter
XR_001755700.2:n.7743A>T
NM_138270.4:c.7330A>T	NP_612114.2:p.Lys2444Ter
NM_000489.6:c.7444A>T MANE Select	NP_000480.3:p.Lys2482Ter
NM_138270.5:c.7330A>T	NP_612114.2:p.Lys2444Ter