Canonical Allele Identifier: CA413704773

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76764028G>A (hg19) ; chrX:g.77508550G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508550G>A , CM000685.2:g.77508550G>A	GRCh38
NC_000023.10:g.76764028G>A , CM000685.1:g.76764028G>A	GRCh37
NC_000023.9:g.76650684G>A	NCBI36
NG_008838.2:g.282672C>T
NG_008838.3:g.282720C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7280C>T MANE Select	ENSP00000362441.4:p.Thr2427Ile
ENST00000675732.1:c.2378C>T	ENSP00000502598.1:p.Thr793Ile
ENST00000373344.9:c.7280C>T	ENSP00000362441.4:p.Thr2427Ile
ENST00000395603.7:c.7166C>T	ENSP00000378967.3:p.Thr2389Ile
ENST00000480283.5:c.*6908C>T	ENSP00000480196.1:n.*6908C>T
ENST00000623706.3:n.5600C>T
ENST00000624766.1:n.511C>T
NM_000489.4:c.7280C>T	NP_000480.3:p.Thr2427Ile
NM_138270.3:c.7166C>T	NP_612114.2:p.Thr2389Ile
XM_005262153.3:c.7277C>T	XP_005262210.2:p.Thr2426Ile
XM_005262154.3:c.7193C>T	XP_005262211.2:p.Thr2398Ile
XM_005262155.3:c.7163C>T	XP_005262212.2:p.Thr2388Ile
XM_005262156.3:c.7115C>T	XP_005262213.2:p.Thr2372Ile
XM_005262157.3:c.7076C>T	XP_005262214.2:p.Thr2359Ile
XM_006724666.2:c.7163C>T	XP_006724729.1:p.Thr2388Ile
XM_006724667.2:c.7001C>T	XP_006724730.1:p.Thr2334Ile
XR_938400.1:n.8872C>T
NM_000489.5:c.7280C>T	NP_000480.3:p.Thr2427Ile
XM_005262153.5:c.7277C>T	XP_005262210.2:p.Thr2426Ile
XM_005262154.5:c.7193C>T	XP_005262211.2:p.Thr2398Ile
XM_005262155.4:c.7163C>T	XP_005262212.2:p.Thr2388Ile
XM_005262156.4:c.7115C>T	XP_005262213.2:p.Thr2372Ile
XM_005262157.5:c.7076C>T	XP_005262214.2:p.Thr2359Ile
XM_006724666.4:c.7163C>T	XP_006724729.1:p.Thr2388Ile
XM_006724667.3:c.7001C>T	XP_006724730.1:p.Thr2334Ile
XM_017029601.2:c.7190C>T	XP_016885090.1:p.Thr2397Ile
XM_017029602.1:c.7160C>T	XP_016885091.1:p.Thr2387Ile
XM_017029603.1:c.7112C>T	XP_016885092.1:p.Thr2371Ile
XM_017029604.2:c.7079C>T	XP_016885093.1:p.Thr2360Ile
XM_017029605.1:c.7076C>T	XP_016885094.1:p.Thr2359Ile
XM_017029606.2:c.7049C>T	XP_016885095.1:p.Thr2350Ile
XM_017029607.2:c.7046C>T	XP_016885096.1:p.Thr2349Ile
XM_017029608.2:c.6998C>T	XP_016885097.1:p.Thr2333Ile
XM_017029609.1:c.6962C>T	XP_016885098.1:p.Thr2321Ile
XM_017029610.1:c.6959C>T	XP_016885099.1:p.Thr2320Ile
XM_017029611.1:c.6914C>T	XP_016885100.1:p.Thr2305Ile
XR_001755700.2:n.7579C>T
NM_138270.4:c.7166C>T	NP_612114.2:p.Thr2389Ile
NM_000489.6:c.7280C>T MANE Select	NP_000480.3:p.Thr2427Ile
NM_138270.5:c.7166C>T	NP_612114.2:p.Thr2389Ile