Canonical Allele Identifier: CA413704776

Gene: ATRX

Linked Data

• dbSNP Id: rs2147651100
• MyVariant Identifiers: chrX:g.76764028G>C (hg19) ; chrX:g.77508550G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7280C>G MANE Select	ENSP00000362441.4:p.Thr2427Ser
ENST00000675732.1:c.2378C>G	ENSP00000502598.1:p.Thr793Ser
ENST00000373344.9:c.7280C>G	ENSP00000362441.4:p.Thr2427Ser
ENST00000395603.7:c.7166C>G	ENSP00000378967.3:p.Thr2389Ser
ENST00000480283.5:c.*6908C>G	ENSP00000480196.1:n.*6908C>G
ENST00000623706.3:n.5600C>G
ENST00000624766.1:n.511C>G
NM_000489.4:c.7280C>G	NP_000480.3:p.Thr2427Ser
NM_138270.3:c.7166C>G	NP_612114.2:p.Thr2389Ser
XM_005262153.3:c.7277C>G	XP_005262210.2:p.Thr2426Ser
XM_005262154.3:c.7193C>G	XP_005262211.2:p.Thr2398Ser
XM_005262155.3:c.7163C>G	XP_005262212.2:p.Thr2388Ser
XM_005262156.3:c.7115C>G	XP_005262213.2:p.Thr2372Ser
XM_005262157.3:c.7076C>G	XP_005262214.2:p.Thr2359Ser
XM_006724666.2:c.7163C>G	XP_006724729.1:p.Thr2388Ser
XM_006724667.2:c.7001C>G	XP_006724730.1:p.Thr2334Ser
XR_938400.1:n.8872C>G
NM_000489.5:c.7280C>G	NP_000480.3:p.Thr2427Ser
XM_005262153.5:c.7277C>G	XP_005262210.2:p.Thr2426Ser
XM_005262154.5:c.7193C>G	XP_005262211.2:p.Thr2398Ser
XM_005262155.4:c.7163C>G	XP_005262212.2:p.Thr2388Ser
XM_005262156.4:c.7115C>G	XP_005262213.2:p.Thr2372Ser
XM_005262157.5:c.7076C>G	XP_005262214.2:p.Thr2359Ser
XM_006724666.4:c.7163C>G	XP_006724729.1:p.Thr2388Ser
XM_006724667.3:c.7001C>G	XP_006724730.1:p.Thr2334Ser
XM_017029601.2:c.7190C>G	XP_016885090.1:p.Thr2397Ser
XM_017029602.1:c.7160C>G	XP_016885091.1:p.Thr2387Ser
XM_017029603.1:c.7112C>G	XP_016885092.1:p.Thr2371Ser
XM_017029604.2:c.7079C>G	XP_016885093.1:p.Thr2360Ser
XM_017029605.1:c.7076C>G	XP_016885094.1:p.Thr2359Ser
XM_017029606.2:c.7049C>G	XP_016885095.1:p.Thr2350Ser
XM_017029607.2:c.7046C>G	XP_016885096.1:p.Thr2349Ser
XM_017029608.2:c.6998C>G	XP_016885097.1:p.Thr2333Ser
XM_017029609.1:c.6962C>G	XP_016885098.1:p.Thr2321Ser
XM_017029610.1:c.6959C>G	XP_016885099.1:p.Thr2320Ser
XM_017029611.1:c.6914C>G	XP_016885100.1:p.Thr2305Ser
XR_001755700.2:n.7579C>G
NM_138270.4:c.7166C>G	NP_612114.2:p.Thr2389Ser
NM_000489.6:c.7280C>G MANE Select	NP_000480.3:p.Thr2427Ser
NM_138270.5:c.7166C>G	NP_612114.2:p.Thr2389Ser