Canonical Allele Identifier: CA413707038

Gene: ATRX

Linked Data

• ClinVar Variation Id: 2877261
• ClinVar RCV Id: RCV003624025
• gnomAD v4: X-77520813-T-C
• MyVariant Identifiers: chrX:g.76776291T>C (hg19) ; chrX:g.77520813T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77520813T>C , CM000685.2:g.77520813T>C	GRCh38
NC_000023.10:g.76776291T>C , CM000685.1:g.76776291T>C	GRCh37
NC_000023.9:g.76662947T>C	NCBI36
NG_008838.2:g.270409A>G
NG_008838.3:g.270457A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7175A>G MANE Select	ENSP00000362441.4:p.Asn2392Ser
ENST00000675732.1:c.2273A>G	ENSP00000502598.1:p.Asn758Ser
ENST00000373344.9:c.7175A>G	ENSP00000362441.4:p.Asn2392Ser
ENST00000395603.7:c.7061A>G	ENSP00000378967.3:p.Asn2354Ser
ENST00000480283.5:c.*6803A>G	ENSP00000480196.1:n.*6803A>G
ENST00000623706.3:n.5495A>G
ENST00000624766.1:n.406A>G
NM_000489.4:c.7175A>G	NP_000480.3:p.Asn2392Ser
NM_138270.3:c.7061A>G	NP_612114.2:p.Asn2354Ser
XM_005262153.3:c.7172A>G	XP_005262210.2:p.Asn2391Ser
XM_005262154.3:c.7088A>G	XP_005262211.2:p.Asn2363Ser
XM_005262155.3:c.7058A>G	XP_005262212.2:p.Asn2353Ser
XM_005262156.3:c.7010A>G	XP_005262213.2:p.Asn2337Ser
XM_005262157.3:c.6971A>G	XP_005262214.2:p.Asn2324Ser
XM_006724666.2:c.7058A>G	XP_006724729.1:p.Asn2353Ser
XM_006724667.2:c.6896A>G	XP_006724730.1:p.Asn2299Ser
XR_938400.1:n.8767A>G
NM_000489.5:c.7175A>G	NP_000480.3:p.Asn2392Ser
XM_005262153.5:c.7172A>G	XP_005262210.2:p.Asn2391Ser
XM_005262154.5:c.7088A>G	XP_005262211.2:p.Asn2363Ser
XM_005262155.4:c.7058A>G	XP_005262212.2:p.Asn2353Ser
XM_005262156.4:c.7010A>G	XP_005262213.2:p.Asn2337Ser
XM_005262157.5:c.6971A>G	XP_005262214.2:p.Asn2324Ser
XM_006724666.4:c.7058A>G	XP_006724729.1:p.Asn2353Ser
XM_006724667.3:c.6896A>G	XP_006724730.1:p.Asn2299Ser
XM_017029601.2:c.7085A>G	XP_016885090.1:p.Asn2362Ser
XM_017029602.1:c.7055A>G	XP_016885091.1:p.Asn2352Ser
XM_017029603.1:c.7007A>G	XP_016885092.1:p.Asn2336Ser
XM_017029604.2:c.6974A>G	XP_016885093.1:p.Asn2325Ser
XM_017029605.1:c.6971A>G	XP_016885094.1:p.Asn2324Ser
XM_017029606.2:c.6944A>G	XP_016885095.1:p.Asn2315Ser
XM_017029607.2:c.6941A>G	XP_016885096.1:p.Asn2314Ser
XM_017029608.2:c.6893A>G	XP_016885097.1:p.Asn2298Ser
XM_017029609.1:c.6857A>G	XP_016885098.1:p.Asn2286Ser
XM_017029610.1:c.6854A>G	XP_016885099.1:p.Asn2285Ser
XM_017029611.1:c.6809A>G	XP_016885100.1:p.Asn2270Ser
XR_001755700.2:n.7474A>G
NM_138270.4:c.7061A>G	NP_612114.2:p.Asn2354Ser
NM_000489.6:c.7175A>G MANE Select	NP_000480.3:p.Asn2392Ser
NM_138270.5:c.7061A>G	NP_612114.2:p.Asn2354Ser