Canonical Allele Identifier: CA331560035

Gene: ATRX

Linked Data

• dbSNP Id: rs782676263
• COSMIC: COSM144225
• MyVariant Identifiers: chrX:g.76763981T>C (hg19) ; chrX:g.77508503T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508503T>C , CM000685.2:g.77508503T>C	GRCh38
NC_000023.10:g.76763981T>C , CM000685.1:g.76763981T>C	GRCh37
NC_000023.9:g.76650637T>C	NCBI36
NG_008838.2:g.282719A>G
NG_008838.3:g.282767A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7327A>G MANE Select	ENSP00000362441.4:p.Asn2443Asp
ENST00000675732.1:c.2425A>G	ENSP00000502598.1:p.Asn809Asp
ENST00000373344.9:c.7327A>G	ENSP00000362441.4:p.Asn2443Asp
ENST00000395603.7:c.7213A>G	ENSP00000378967.3:p.Asn2405Asp
ENST00000480283.5:c.*6955A>G	ENSP00000480196.1:n.*6955A>G
ENST00000623706.3:n.5647A>G
ENST00000624766.1:n.558A>G
NM_000489.4:c.7327A>G	NP_000480.3:p.Asn2443Asp
NM_138270.3:c.7213A>G	NP_612114.2:p.Asn2405Asp
XM_005262153.3:c.7324A>G	XP_005262210.2:p.Asn2442Asp
XM_005262154.3:c.7240A>G	XP_005262211.2:p.Asn2414Asp
XM_005262155.3:c.7210A>G	XP_005262212.2:p.Asn2404Asp
XM_005262156.3:c.7162A>G	XP_005262213.2:p.Asn2388Asp
XM_005262157.3:c.7123A>G	XP_005262214.2:p.Asn2375Asp
XM_006724666.2:c.7210A>G	XP_006724729.1:p.Asn2404Asp
XM_006724667.2:c.7048A>G	XP_006724730.1:p.Asn2350Asp
XR_938400.1:n.8919A>G
NM_000489.5:c.7327A>G	NP_000480.3:p.Asn2443Asp
XM_005262153.5:c.7324A>G	XP_005262210.2:p.Asn2442Asp
XM_005262154.5:c.7240A>G	XP_005262211.2:p.Asn2414Asp
XM_005262155.4:c.7210A>G	XP_005262212.2:p.Asn2404Asp
XM_005262156.4:c.7162A>G	XP_005262213.2:p.Asn2388Asp
XM_005262157.5:c.7123A>G	XP_005262214.2:p.Asn2375Asp
XM_006724666.4:c.7210A>G	XP_006724729.1:p.Asn2404Asp
XM_006724667.3:c.7048A>G	XP_006724730.1:p.Asn2350Asp
XM_017029601.2:c.7237A>G	XP_016885090.1:p.Asn2413Asp
XM_017029602.1:c.7207A>G	XP_016885091.1:p.Asn2403Asp
XM_017029603.1:c.7159A>G	XP_016885092.1:p.Asn2387Asp
XM_017029604.2:c.7126A>G	XP_016885093.1:p.Asn2376Asp
XM_017029605.1:c.7123A>G	XP_016885094.1:p.Asn2375Asp
XM_017029606.2:c.7096A>G	XP_016885095.1:p.Asn2366Asp
XM_017029607.2:c.7093A>G	XP_016885096.1:p.Asn2365Asp
XM_017029608.2:c.7045A>G	XP_016885097.1:p.Asn2349Asp
XM_017029609.1:c.7009A>G	XP_016885098.1:p.Asn2337Asp
XM_017029610.1:c.7006A>G	XP_016885099.1:p.Asn2336Asp
XM_017029611.1:c.6961A>G	XP_016885100.1:p.Asn2321Asp
XR_001755700.2:n.7626A>G
NM_138270.4:c.7213A>G	NP_612114.2:p.Asn2405Asp
NM_000489.6:c.7327A>G MANE Select	NP_000480.3:p.Asn2443Asp
NM_138270.5:c.7213A>G	NP_612114.2:p.Asn2405Asp