Canonical Allele Identifier: CA413704789

Gene: ATRX

Linked Data

• dbSNP Id: rs2147651129
• MyVariant Identifiers: chrX:g.76764029T>G (hg19) ; chrX:g.77508551T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7279A>C MANE Select	ENSP00000362441.4:p.Thr2427Pro
ENST00000675732.1:c.2377A>C	ENSP00000502598.1:p.Thr793Pro
ENST00000373344.9:c.7279A>C	ENSP00000362441.4:p.Thr2427Pro
ENST00000395603.7:c.7165A>C	ENSP00000378967.3:p.Thr2389Pro
ENST00000480283.5:c.*6907A>C	ENSP00000480196.1:n.*6907A>C
ENST00000623706.3:n.5599A>C
ENST00000624766.1:n.510A>C
NM_000489.4:c.7279A>C	NP_000480.3:p.Thr2427Pro
NM_138270.3:c.7165A>C	NP_612114.2:p.Thr2389Pro
XM_005262153.3:c.7276A>C	XP_005262210.2:p.Thr2426Pro
XM_005262154.3:c.7192A>C	XP_005262211.2:p.Thr2398Pro
XM_005262155.3:c.7162A>C	XP_005262212.2:p.Thr2388Pro
XM_005262156.3:c.7114A>C	XP_005262213.2:p.Thr2372Pro
XM_005262157.3:c.7075A>C	XP_005262214.2:p.Thr2359Pro
XM_006724666.2:c.7162A>C	XP_006724729.1:p.Thr2388Pro
XM_006724667.2:c.7000A>C	XP_006724730.1:p.Thr2334Pro
XR_938400.1:n.8871A>C
NM_000489.5:c.7279A>C	NP_000480.3:p.Thr2427Pro
XM_005262153.5:c.7276A>C	XP_005262210.2:p.Thr2426Pro
XM_005262154.5:c.7192A>C	XP_005262211.2:p.Thr2398Pro
XM_005262155.4:c.7162A>C	XP_005262212.2:p.Thr2388Pro
XM_005262156.4:c.7114A>C	XP_005262213.2:p.Thr2372Pro
XM_005262157.5:c.7075A>C	XP_005262214.2:p.Thr2359Pro
XM_006724666.4:c.7162A>C	XP_006724729.1:p.Thr2388Pro
XM_006724667.3:c.7000A>C	XP_006724730.1:p.Thr2334Pro
XM_017029601.2:c.7189A>C	XP_016885090.1:p.Thr2397Pro
XM_017029602.1:c.7159A>C	XP_016885091.1:p.Thr2387Pro
XM_017029603.1:c.7111A>C	XP_016885092.1:p.Thr2371Pro
XM_017029604.2:c.7078A>C	XP_016885093.1:p.Thr2360Pro
XM_017029605.1:c.7075A>C	XP_016885094.1:p.Thr2359Pro
XM_017029606.2:c.7048A>C	XP_016885095.1:p.Thr2350Pro
XM_017029607.2:c.7045A>C	XP_016885096.1:p.Thr2349Pro
XM_017029608.2:c.6997A>C	XP_016885097.1:p.Thr2333Pro
XM_017029609.1:c.6961A>C	XP_016885098.1:p.Thr2321Pro
XM_017029610.1:c.6958A>C	XP_016885099.1:p.Thr2320Pro
XM_017029611.1:c.6913A>C	XP_016885100.1:p.Thr2305Pro
XR_001755700.2:n.7578A>C
NM_138270.4:c.7165A>C	NP_612114.2:p.Thr2389Pro
NM_000489.6:c.7279A>C MANE Select	NP_000480.3:p.Thr2427Pro
NM_138270.5:c.7165A>C	NP_612114.2:p.Thr2389Pro