Canonical Allele Identifier: CA413703690

Gene: ATRX

Linked Data

• ClinVar Variation Id: 1623753
• ClinVar RCV Id: RCV002110295
• dbSNP Id: rs1557034699
• gnomAD v2: X-76763879-G-T
• gnomAD v3: X-77508401-G-T
• gnomAD v4: X-77508401-G-T
• MyVariant Identifiers: chrX:g.76763879G>T (hg19) ; chrX:g.77508401G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508401G>T , CM000685.2:g.77508401G>T	GRCh38
NC_000023.10:g.76763879G>T , CM000685.1:g.76763879G>T	GRCh37
NC_000023.9:g.76650535G>T	NCBI36
NG_008838.2:g.282821C>A
NG_008838.3:g.282869C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7429C>A MANE Select	ENSP00000362441.4:p.Pro2477Thr
ENST00000675732.1:c.2527C>A	ENSP00000502598.1:p.Pro843Thr
ENST00000373344.9:c.7429C>A	ENSP00000362441.4:p.Pro2477Thr
ENST00000395603.7:c.7315C>A	ENSP00000378967.3:p.Pro2439Thr
ENST00000480283.5:c.*7057C>A	ENSP00000480196.1:n.*7057C>A
ENST00000623706.3:n.5749C>A
NM_000489.4:c.7429C>A	NP_000480.3:p.Pro2477Thr
NM_138270.3:c.7315C>A	NP_612114.2:p.Pro2439Thr
XM_005262153.3:c.7426C>A	XP_005262210.2:p.Pro2476Thr
XM_005262154.3:c.7342C>A	XP_005262211.2:p.Pro2448Thr
XM_005262155.3:c.7312C>A	XP_005262212.2:p.Pro2438Thr
XM_005262156.3:c.7264C>A	XP_005262213.2:p.Pro2422Thr
XM_005262157.3:c.7225C>A	XP_005262214.2:p.Pro2409Thr
XM_006724666.2:c.7312C>A	XP_006724729.1:p.Pro2438Thr
XM_006724667.2:c.7150C>A	XP_006724730.1:p.Pro2384Thr
XR_938400.1:n.9021C>A
NM_000489.5:c.7429C>A	NP_000480.3:p.Pro2477Thr
XM_005262153.5:c.7426C>A	XP_005262210.2:p.Pro2476Thr
XM_005262154.5:c.7342C>A	XP_005262211.2:p.Pro2448Thr
XM_005262155.4:c.7312C>A	XP_005262212.2:p.Pro2438Thr
XM_005262156.4:c.7264C>A	XP_005262213.2:p.Pro2422Thr
XM_005262157.5:c.7225C>A	XP_005262214.2:p.Pro2409Thr
XM_006724666.4:c.7312C>A	XP_006724729.1:p.Pro2438Thr
XM_006724667.3:c.7150C>A	XP_006724730.1:p.Pro2384Thr
XM_017029601.2:c.7339C>A	XP_016885090.1:p.Pro2447Thr
XM_017029602.1:c.7309C>A	XP_016885091.1:p.Pro2437Thr
XM_017029603.1:c.7261C>A	XP_016885092.1:p.Pro2421Thr
XM_017029604.2:c.7228C>A	XP_016885093.1:p.Pro2410Thr
XM_017029605.1:c.7225C>A	XP_016885094.1:p.Pro2409Thr
XM_017029606.2:c.7198C>A	XP_016885095.1:p.Pro2400Thr
XM_017029607.2:c.7195C>A	XP_016885096.1:p.Pro2399Thr
XM_017029608.2:c.7147C>A	XP_016885097.1:p.Pro2383Thr
XM_017029609.1:c.7111C>A	XP_016885098.1:p.Pro2371Thr
XM_017029610.1:c.7108C>A	XP_016885099.1:p.Pro2370Thr
XM_017029611.1:c.7063C>A	XP_016885100.1:p.Pro2355Thr
XR_001755700.2:n.7728C>A
NM_138270.4:c.7315C>A	NP_612114.2:p.Pro2439Thr
NM_000489.6:c.7429C>A MANE Select	NP_000480.3:p.Pro2477Thr
NM_138270.5:c.7315C>A	NP_612114.2:p.Pro2439Thr