Canonical Allele Identifier: CA413704786

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76764029T>C (hg19) ; chrX:g.77508551T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508551T>C , CM000685.2:g.77508551T>C	GRCh38
NC_000023.10:g.76764029T>C , CM000685.1:g.76764029T>C	GRCh37
NC_000023.9:g.76650685T>C	NCBI36
NG_008838.2:g.282671A>G
NG_008838.3:g.282719A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7279A>G MANE Select	ENSP00000362441.4:p.Thr2427Ala
ENST00000675732.1:c.2377A>G	ENSP00000502598.1:p.Thr793Ala
ENST00000373344.9:c.7279A>G	ENSP00000362441.4:p.Thr2427Ala
ENST00000395603.7:c.7165A>G	ENSP00000378967.3:p.Thr2389Ala
ENST00000480283.5:c.*6907A>G	ENSP00000480196.1:n.*6907A>G
ENST00000623706.3:n.5599A>G
ENST00000624766.1:n.510A>G
NM_000489.4:c.7279A>G	NP_000480.3:p.Thr2427Ala
NM_138270.3:c.7165A>G	NP_612114.2:p.Thr2389Ala
XM_005262153.3:c.7276A>G	XP_005262210.2:p.Thr2426Ala
XM_005262154.3:c.7192A>G	XP_005262211.2:p.Thr2398Ala
XM_005262155.3:c.7162A>G	XP_005262212.2:p.Thr2388Ala
XM_005262156.3:c.7114A>G	XP_005262213.2:p.Thr2372Ala
XM_005262157.3:c.7075A>G	XP_005262214.2:p.Thr2359Ala
XM_006724666.2:c.7162A>G	XP_006724729.1:p.Thr2388Ala
XM_006724667.2:c.7000A>G	XP_006724730.1:p.Thr2334Ala
XR_938400.1:n.8871A>G
NM_000489.5:c.7279A>G	NP_000480.3:p.Thr2427Ala
XM_005262153.5:c.7276A>G	XP_005262210.2:p.Thr2426Ala
XM_005262154.5:c.7192A>G	XP_005262211.2:p.Thr2398Ala
XM_005262155.4:c.7162A>G	XP_005262212.2:p.Thr2388Ala
XM_005262156.4:c.7114A>G	XP_005262213.2:p.Thr2372Ala
XM_005262157.5:c.7075A>G	XP_005262214.2:p.Thr2359Ala
XM_006724666.4:c.7162A>G	XP_006724729.1:p.Thr2388Ala
XM_006724667.3:c.7000A>G	XP_006724730.1:p.Thr2334Ala
XM_017029601.2:c.7189A>G	XP_016885090.1:p.Thr2397Ala
XM_017029602.1:c.7159A>G	XP_016885091.1:p.Thr2387Ala
XM_017029603.1:c.7111A>G	XP_016885092.1:p.Thr2371Ala
XM_017029604.2:c.7078A>G	XP_016885093.1:p.Thr2360Ala
XM_017029605.1:c.7075A>G	XP_016885094.1:p.Thr2359Ala
XM_017029606.2:c.7048A>G	XP_016885095.1:p.Thr2350Ala
XM_017029607.2:c.7045A>G	XP_016885096.1:p.Thr2349Ala
XM_017029608.2:c.6997A>G	XP_016885097.1:p.Thr2333Ala
XM_017029609.1:c.6961A>G	XP_016885098.1:p.Thr2321Ala
XM_017029610.1:c.6958A>G	XP_016885099.1:p.Thr2320Ala
XM_017029611.1:c.6913A>G	XP_016885100.1:p.Thr2305Ala
XR_001755700.2:n.7578A>G
NM_138270.4:c.7165A>G	NP_612114.2:p.Thr2389Ala
NM_000489.6:c.7279A>G MANE Select	NP_000480.3:p.Thr2427Ala
NM_138270.5:c.7165A>G	NP_612114.2:p.Thr2389Ala