Canonical Allele Identifier: CA413704399

Gene: ATRX

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7328A>G MANE Select	ENSP00000362441.4:p.Asn2443Ser
ENST00000675732.1:c.2426A>G	ENSP00000502598.1:p.Asn809Ser
ENST00000373344.9:c.7328A>G	ENSP00000362441.4:p.Asn2443Ser
ENST00000395603.7:c.7214A>G	ENSP00000378967.3:p.Asn2405Ser
ENST00000480283.5:c.*6956A>G	ENSP00000480196.1:n.*6956A>G
ENST00000623706.3:n.5648A>G
ENST00000624766.1:n.559A>G
NM_000489.4:c.7328A>G	NP_000480.3:p.Asn2443Ser
NM_138270.3:c.7214A>G	NP_612114.2:p.Asn2405Ser
XM_005262153.3:c.7325A>G	XP_005262210.2:p.Asn2442Ser
XM_005262154.3:c.7241A>G	XP_005262211.2:p.Asn2414Ser
XM_005262155.3:c.7211A>G	XP_005262212.2:p.Asn2404Ser
XM_005262156.3:c.7163A>G	XP_005262213.2:p.Asn2388Ser
XM_005262157.3:c.7124A>G	XP_005262214.2:p.Asn2375Ser
XM_006724666.2:c.7211A>G	XP_006724729.1:p.Asn2404Ser
XM_006724667.2:c.7049A>G	XP_006724730.1:p.Asn2350Ser
XR_938400.1:n.8920A>G
NM_000489.5:c.7328A>G	NP_000480.3:p.Asn2443Ser
XM_005262153.5:c.7325A>G	XP_005262210.2:p.Asn2442Ser
XM_005262154.5:c.7241A>G	XP_005262211.2:p.Asn2414Ser
XM_005262155.4:c.7211A>G	XP_005262212.2:p.Asn2404Ser
XM_005262156.4:c.7163A>G	XP_005262213.2:p.Asn2388Ser
XM_005262157.5:c.7124A>G	XP_005262214.2:p.Asn2375Ser
XM_006724666.4:c.7211A>G	XP_006724729.1:p.Asn2404Ser
XM_006724667.3:c.7049A>G	XP_006724730.1:p.Asn2350Ser
XM_017029601.2:c.7238A>G	XP_016885090.1:p.Asn2413Ser
XM_017029602.1:c.7208A>G	XP_016885091.1:p.Asn2403Ser
XM_017029603.1:c.7160A>G	XP_016885092.1:p.Asn2387Ser
XM_017029604.2:c.7127A>G	XP_016885093.1:p.Asn2376Ser
XM_017029605.1:c.7124A>G	XP_016885094.1:p.Asn2375Ser
XM_017029606.2:c.7097A>G	XP_016885095.1:p.Asn2366Ser
XM_017029607.2:c.7094A>G	XP_016885096.1:p.Asn2365Ser
XM_017029608.2:c.7046A>G	XP_016885097.1:p.Asn2349Ser
XM_017029609.1:c.7010A>G	XP_016885098.1:p.Asn2337Ser
XM_017029610.1:c.7007A>G	XP_016885099.1:p.Asn2336Ser
XM_017029611.1:c.6962A>G	XP_016885100.1:p.Asn2321Ser
XR_001755700.2:n.7627A>G
NM_138270.4:c.7214A>G	NP_612114.2:p.Asn2405Ser
NM_000489.6:c.7328A>G MANE Select	NP_000480.3:p.Asn2443Ser
NM_138270.5:c.7214A>G	NP_612114.2:p.Asn2405Ser