Canonical Allele Identifier: CA10457396

Gene: ATRX

Linked Data

• ClinVar Variation Id: 1136090
• ClinVar RCV Id: RCV001471642
• dbSNP Id: rs149242238
• ExAC: X:76763988 C / T
• gnomAD v2: X-76763988-C-T
• gnomAD v3: X-77508510-C-T
• gnomAD v4: X-77508510-C-T
• MyVariant Identifiers: chrX:g.76763988C>T (hg19) ; chrX:g.77508510C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508510C>T , CM000685.2:g.77508510C>T	GRCh38
NC_000023.10:g.76763988C>T , CM000685.1:g.76763988C>T	GRCh37
NC_000023.9:g.76650644C>T	NCBI36
NG_008838.2:g.282712G>A
NG_008838.3:g.282760G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7320G>A MANE Select	ENSP00000362441.4:p.Lys2440=
ENST00000675732.1:c.2418G>A	ENSP00000502598.1:p.Lys806=
ENST00000373344.9:c.7320G>A	ENSP00000362441.4:p.Lys2440=
ENST00000395603.7:c.7206G>A	ENSP00000378967.3:p.Lys2402=
ENST00000480283.5:c.*6948G>A	ENSP00000480196.1:n.*6948G>A
ENST00000623706.3:n.5640G>A
ENST00000624766.1:n.551G>A
NM_000489.4:c.7320G>A	NP_000480.3:p.Lys2440=
NM_138270.3:c.7206G>A	NP_612114.2:p.Lys2402=
XM_005262153.3:c.7317G>A	XP_005262210.2:p.Lys2439=
XM_005262154.3:c.7233G>A	XP_005262211.2:p.Lys2411=
XM_005262155.3:c.7203G>A	XP_005262212.2:p.Lys2401=
XM_005262156.3:c.7155G>A	XP_005262213.2:p.Lys2385=
XM_005262157.3:c.7116G>A	XP_005262214.2:p.Lys2372=
XM_006724666.2:c.7203G>A	XP_006724729.1:p.Lys2401=
XM_006724667.2:c.7041G>A	XP_006724730.1:p.Lys2347=
XR_938400.1:n.8912G>A
NM_000489.5:c.7320G>A	NP_000480.3:p.Lys2440=
XM_005262153.5:c.7317G>A	XP_005262210.2:p.Lys2439=
XM_005262154.5:c.7233G>A	XP_005262211.2:p.Lys2411=
XM_005262155.4:c.7203G>A	XP_005262212.2:p.Lys2401=
XM_005262156.4:c.7155G>A	XP_005262213.2:p.Lys2385=
XM_005262157.5:c.7116G>A	XP_005262214.2:p.Lys2372=
XM_006724666.4:c.7203G>A	XP_006724729.1:p.Lys2401=
XM_006724667.3:c.7041G>A	XP_006724730.1:p.Lys2347=
XM_017029601.2:c.7230G>A	XP_016885090.1:p.Lys2410=
XM_017029602.1:c.7200G>A	XP_016885091.1:p.Lys2400=
XM_017029603.1:c.7152G>A	XP_016885092.1:p.Lys2384=
XM_017029604.2:c.7119G>A	XP_016885093.1:p.Lys2373=
XM_017029605.1:c.7116G>A	XP_016885094.1:p.Lys2372=
XM_017029606.2:c.7089G>A	XP_016885095.1:p.Lys2363=
XM_017029607.2:c.7086G>A	XP_016885096.1:p.Lys2362=
XM_017029608.2:c.7038G>A	XP_016885097.1:p.Lys2346=
XM_017029609.1:c.7002G>A	XP_016885098.1:p.Lys2334=
XM_017029610.1:c.6999G>A	XP_016885099.1:p.Lys2333=
XM_017029611.1:c.6954G>A	XP_016885100.1:p.Lys2318=
XR_001755700.2:n.7619G>A
NM_138270.4:c.7206G>A	NP_612114.2:p.Lys2402=
NM_000489.6:c.7320G>A MANE Select	NP_000480.3:p.Lys2440=
NM_138270.5:c.7206G>A	NP_612114.2:p.Lys2402=