Canonical Allele Identifier: CA413704780

Gene: ATRX

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7280C>A MANE Select	ENSP00000362441.4:p.Thr2427Asn
ENST00000675732.1:c.2378C>A	ENSP00000502598.1:p.Thr793Asn
ENST00000373344.9:c.7280C>A	ENSP00000362441.4:p.Thr2427Asn
ENST00000395603.7:c.7166C>A	ENSP00000378967.3:p.Thr2389Asn
ENST00000480283.5:c.*6908C>A	ENSP00000480196.1:n.*6908C>A
ENST00000623706.3:n.5600C>A
ENST00000624766.1:n.511C>A
NM_000489.4:c.7280C>A	NP_000480.3:p.Thr2427Asn
NM_138270.3:c.7166C>A	NP_612114.2:p.Thr2389Asn
XM_005262153.3:c.7277C>A	XP_005262210.2:p.Thr2426Asn
XM_005262154.3:c.7193C>A	XP_005262211.2:p.Thr2398Asn
XM_005262155.3:c.7163C>A	XP_005262212.2:p.Thr2388Asn
XM_005262156.3:c.7115C>A	XP_005262213.2:p.Thr2372Asn
XM_005262157.3:c.7076C>A	XP_005262214.2:p.Thr2359Asn
XM_006724666.2:c.7163C>A	XP_006724729.1:p.Thr2388Asn
XM_006724667.2:c.7001C>A	XP_006724730.1:p.Thr2334Asn
XR_938400.1:n.8872C>A
NM_000489.5:c.7280C>A	NP_000480.3:p.Thr2427Asn
XM_005262153.5:c.7277C>A	XP_005262210.2:p.Thr2426Asn
XM_005262154.5:c.7193C>A	XP_005262211.2:p.Thr2398Asn
XM_005262155.4:c.7163C>A	XP_005262212.2:p.Thr2388Asn
XM_005262156.4:c.7115C>A	XP_005262213.2:p.Thr2372Asn
XM_005262157.5:c.7076C>A	XP_005262214.2:p.Thr2359Asn
XM_006724666.4:c.7163C>A	XP_006724729.1:p.Thr2388Asn
XM_006724667.3:c.7001C>A	XP_006724730.1:p.Thr2334Asn
XM_017029601.2:c.7190C>A	XP_016885090.1:p.Thr2397Asn
XM_017029602.1:c.7160C>A	XP_016885091.1:p.Thr2387Asn
XM_017029603.1:c.7112C>A	XP_016885092.1:p.Thr2371Asn
XM_017029604.2:c.7079C>A	XP_016885093.1:p.Thr2360Asn
XM_017029605.1:c.7076C>A	XP_016885094.1:p.Thr2359Asn
XM_017029606.2:c.7049C>A	XP_016885095.1:p.Thr2350Asn
XM_017029607.2:c.7046C>A	XP_016885096.1:p.Thr2349Asn
XM_017029608.2:c.6998C>A	XP_016885097.1:p.Thr2333Asn
XM_017029609.1:c.6962C>A	XP_016885098.1:p.Thr2321Asn
XM_017029610.1:c.6959C>A	XP_016885099.1:p.Thr2320Asn
XM_017029611.1:c.6914C>A	XP_016885100.1:p.Thr2305Asn
XR_001755700.2:n.7579C>A
NM_138270.4:c.7166C>A	NP_612114.2:p.Thr2389Asn
NM_000489.6:c.7280C>A MANE Select	NP_000480.3:p.Thr2427Asn
NM_138270.5:c.7166C>A	NP_612114.2:p.Thr2389Asn