Canonical Allele Identifier: CA413704403

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763980T>G (hg19) ; chrX:g.77508502T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508502T>G , CM000685.2:g.77508502T>G	GRCh38
NC_000023.10:g.76763980T>G , CM000685.1:g.76763980T>G	GRCh37
NC_000023.9:g.76650636T>G	NCBI36
NG_008838.2:g.282720A>C
NG_008838.3:g.282768A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7328A>C MANE Select	ENSP00000362441.4:p.Asn2443Thr
ENST00000675732.1:c.2426A>C	ENSP00000502598.1:p.Asn809Thr
ENST00000373344.9:c.7328A>C	ENSP00000362441.4:p.Asn2443Thr
ENST00000395603.7:c.7214A>C	ENSP00000378967.3:p.Asn2405Thr
ENST00000480283.5:c.*6956A>C	ENSP00000480196.1:n.*6956A>C
ENST00000623706.3:n.5648A>C
ENST00000624766.1:n.559A>C
NM_000489.4:c.7328A>C	NP_000480.3:p.Asn2443Thr
NM_138270.3:c.7214A>C	NP_612114.2:p.Asn2405Thr
XM_005262153.3:c.7325A>C	XP_005262210.2:p.Asn2442Thr
XM_005262154.3:c.7241A>C	XP_005262211.2:p.Asn2414Thr
XM_005262155.3:c.7211A>C	XP_005262212.2:p.Asn2404Thr
XM_005262156.3:c.7163A>C	XP_005262213.2:p.Asn2388Thr
XM_005262157.3:c.7124A>C	XP_005262214.2:p.Asn2375Thr
XM_006724666.2:c.7211A>C	XP_006724729.1:p.Asn2404Thr
XM_006724667.2:c.7049A>C	XP_006724730.1:p.Asn2350Thr
XR_938400.1:n.8920A>C
NM_000489.5:c.7328A>C	NP_000480.3:p.Asn2443Thr
XM_005262153.5:c.7325A>C	XP_005262210.2:p.Asn2442Thr
XM_005262154.5:c.7241A>C	XP_005262211.2:p.Asn2414Thr
XM_005262155.4:c.7211A>C	XP_005262212.2:p.Asn2404Thr
XM_005262156.4:c.7163A>C	XP_005262213.2:p.Asn2388Thr
XM_005262157.5:c.7124A>C	XP_005262214.2:p.Asn2375Thr
XM_006724666.4:c.7211A>C	XP_006724729.1:p.Asn2404Thr
XM_006724667.3:c.7049A>C	XP_006724730.1:p.Asn2350Thr
XM_017029601.2:c.7238A>C	XP_016885090.1:p.Asn2413Thr
XM_017029602.1:c.7208A>C	XP_016885091.1:p.Asn2403Thr
XM_017029603.1:c.7160A>C	XP_016885092.1:p.Asn2387Thr
XM_017029604.2:c.7127A>C	XP_016885093.1:p.Asn2376Thr
XM_017029605.1:c.7124A>C	XP_016885094.1:p.Asn2375Thr
XM_017029606.2:c.7097A>C	XP_016885095.1:p.Asn2366Thr
XM_017029607.2:c.7094A>C	XP_016885096.1:p.Asn2365Thr
XM_017029608.2:c.7046A>C	XP_016885097.1:p.Asn2349Thr
XM_017029609.1:c.7010A>C	XP_016885098.1:p.Asn2337Thr
XM_017029610.1:c.7007A>C	XP_016885099.1:p.Asn2336Thr
XM_017029611.1:c.6962A>C	XP_016885100.1:p.Asn2321Thr
XR_001755700.2:n.7627A>C
NM_138270.4:c.7214A>C	NP_612114.2:p.Asn2405Thr
NM_000489.6:c.7328A>C MANE Select	NP_000480.3:p.Asn2443Thr
NM_138270.5:c.7214A>C	NP_612114.2:p.Asn2405Thr