Canonical Allele Identifier: CA413704389

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763979A>C (hg19) ; chrX:g.77508501A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508501A>C , CM000685.2:g.77508501A>C	GRCh38
NC_000023.10:g.76763979A>C , CM000685.1:g.76763979A>C	GRCh37
NC_000023.9:g.76650635A>C	NCBI36
NG_008838.2:g.282721T>G
NG_008838.3:g.282769T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7329T>G MANE Select	ENSP00000362441.4:p.Asn2443Lys
ENST00000675732.1:c.2427T>G	ENSP00000502598.1:p.Asn809Lys
ENST00000373344.9:c.7329T>G	ENSP00000362441.4:p.Asn2443Lys
ENST00000395603.7:c.7215T>G	ENSP00000378967.3:p.Asn2405Lys
ENST00000480283.5:c.*6957T>G	ENSP00000480196.1:n.*6957T>G
ENST00000623706.3:n.5649T>G
ENST00000624766.1:n.560T>G
NM_000489.4:c.7329T>G	NP_000480.3:p.Asn2443Lys
NM_138270.3:c.7215T>G	NP_612114.2:p.Asn2405Lys
XM_005262153.3:c.7326T>G	XP_005262210.2:p.Asn2442Lys
XM_005262154.3:c.7242T>G	XP_005262211.2:p.Asn2414Lys
XM_005262155.3:c.7212T>G	XP_005262212.2:p.Asn2404Lys
XM_005262156.3:c.7164T>G	XP_005262213.2:p.Asn2388Lys
XM_005262157.3:c.7125T>G	XP_005262214.2:p.Asn2375Lys
XM_006724666.2:c.7212T>G	XP_006724729.1:p.Asn2404Lys
XM_006724667.2:c.7050T>G	XP_006724730.1:p.Asn2350Lys
XR_938400.1:n.8921T>G
NM_000489.5:c.7329T>G	NP_000480.3:p.Asn2443Lys
XM_005262153.5:c.7326T>G	XP_005262210.2:p.Asn2442Lys
XM_005262154.5:c.7242T>G	XP_005262211.2:p.Asn2414Lys
XM_005262155.4:c.7212T>G	XP_005262212.2:p.Asn2404Lys
XM_005262156.4:c.7164T>G	XP_005262213.2:p.Asn2388Lys
XM_005262157.5:c.7125T>G	XP_005262214.2:p.Asn2375Lys
XM_006724666.4:c.7212T>G	XP_006724729.1:p.Asn2404Lys
XM_006724667.3:c.7050T>G	XP_006724730.1:p.Asn2350Lys
XM_017029601.2:c.7239T>G	XP_016885090.1:p.Asn2413Lys
XM_017029602.1:c.7209T>G	XP_016885091.1:p.Asn2403Lys
XM_017029603.1:c.7161T>G	XP_016885092.1:p.Asn2387Lys
XM_017029604.2:c.7128T>G	XP_016885093.1:p.Asn2376Lys
XM_017029605.1:c.7125T>G	XP_016885094.1:p.Asn2375Lys
XM_017029606.2:c.7098T>G	XP_016885095.1:p.Asn2366Lys
XM_017029607.2:c.7095T>G	XP_016885096.1:p.Asn2365Lys
XM_017029608.2:c.7047T>G	XP_016885097.1:p.Asn2349Lys
XM_017029609.1:c.7011T>G	XP_016885098.1:p.Asn2337Lys
XM_017029610.1:c.7008T>G	XP_016885099.1:p.Asn2336Lys
XM_017029611.1:c.6963T>G	XP_016885100.1:p.Asn2321Lys
XR_001755700.2:n.7628T>G
NM_138270.4:c.7215T>G	NP_612114.2:p.Asn2405Lys
NM_000489.6:c.7329T>G MANE Select	NP_000480.3:p.Asn2443Lys
NM_138270.5:c.7215T>G	NP_612114.2:p.Asn2405Lys