Canonical Allele Identifier: CA10457378

Gene: ATRX

Linked Data

• ClinVar Variation Id: 1169594
• ClinVar RCV Id: RCV001521095
• dbSNP Id: rs199543136
• ExAC: X:76763876 G / A
• gnomAD v2: X-76763876-G-A
• gnomAD v3: X-77508398-G-A
• gnomAD v4: X-77508398-G-A
• MyVariant Identifiers: chrX:g.76763876G>A (hg19) ; chrX:g.77508398G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508398G>A , CM000685.2:g.77508398G>A	GRCh38
NC_000023.10:g.76763876G>A , CM000685.1:g.76763876G>A	GRCh37
NC_000023.9:g.76650532G>A	NCBI36
NG_008838.2:g.282824C>T
NG_008838.3:g.282872C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7432C>T MANE Select	ENSP00000362441.4:p.Pro2478Ser
ENST00000675732.1:c.2530C>T	ENSP00000502598.1:p.Pro844Ser
ENST00000373344.9:c.7432C>T	ENSP00000362441.4:p.Pro2478Ser
ENST00000395603.7:c.7318C>T	ENSP00000378967.3:p.Pro2440Ser
ENST00000480283.5:c.*7060C>T	ENSP00000480196.1:n.*7060C>T
ENST00000623706.3:n.5752C>T
NM_000489.4:c.7432C>T	NP_000480.3:p.Pro2478Ser
NM_138270.3:c.7318C>T	NP_612114.2:p.Pro2440Ser
XM_005262153.3:c.7429C>T	XP_005262210.2:p.Pro2477Ser
XM_005262154.3:c.7345C>T	XP_005262211.2:p.Pro2449Ser
XM_005262155.3:c.7315C>T	XP_005262212.2:p.Pro2439Ser
XM_005262156.3:c.7267C>T	XP_005262213.2:p.Pro2423Ser
XM_005262157.3:c.7228C>T	XP_005262214.2:p.Pro2410Ser
XM_006724666.2:c.7315C>T	XP_006724729.1:p.Pro2439Ser
XM_006724667.2:c.7153C>T	XP_006724730.1:p.Pro2385Ser
XR_938400.1:n.9024C>T
NM_000489.5:c.7432C>T	NP_000480.3:p.Pro2478Ser
XM_005262153.5:c.7429C>T	XP_005262210.2:p.Pro2477Ser
XM_005262154.5:c.7345C>T	XP_005262211.2:p.Pro2449Ser
XM_005262155.4:c.7315C>T	XP_005262212.2:p.Pro2439Ser
XM_005262156.4:c.7267C>T	XP_005262213.2:p.Pro2423Ser
XM_005262157.5:c.7228C>T	XP_005262214.2:p.Pro2410Ser
XM_006724666.4:c.7315C>T	XP_006724729.1:p.Pro2439Ser
XM_006724667.3:c.7153C>T	XP_006724730.1:p.Pro2385Ser
XM_017029601.2:c.7342C>T	XP_016885090.1:p.Pro2448Ser
XM_017029602.1:c.7312C>T	XP_016885091.1:p.Pro2438Ser
XM_017029603.1:c.7264C>T	XP_016885092.1:p.Pro2422Ser
XM_017029604.2:c.7231C>T	XP_016885093.1:p.Pro2411Ser
XM_017029605.1:c.7228C>T	XP_016885094.1:p.Pro2410Ser
XM_017029606.2:c.7201C>T	XP_016885095.1:p.Pro2401Ser
XM_017029607.2:c.7198C>T	XP_016885096.1:p.Pro2400Ser
XM_017029608.2:c.7150C>T	XP_016885097.1:p.Pro2384Ser
XM_017029609.1:c.7114C>T	XP_016885098.1:p.Pro2372Ser
XM_017029610.1:c.7111C>T	XP_016885099.1:p.Pro2371Ser
XM_017029611.1:c.7066C>T	XP_016885100.1:p.Pro2356Ser
XR_001755700.2:n.7731C>T
NM_138270.4:c.7318C>T	NP_612114.2:p.Pro2440Ser
NM_000489.6:c.7432C>T MANE Select	NP_000480.3:p.Pro2478Ser
NM_138270.5:c.7318C>T	NP_612114.2:p.Pro2440Ser