Canonical Allele Identifier: CA517374000

Gene: ATRX

Linked Data

• ClinVar Variation Id: 2816586
• ClinVar RCV Id: RCV003625274
• MyVariant Identifiers: chrX:g.76763877G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508399G>A , CM000685.2:g.77508399G>A	GRCh38
NC_000023.10:g.76763877G>A , CM000685.1:g.76763877G>A	GRCh37
NC_000023.9:g.76650533G>A	NCBI36
NG_008838.2:g.282823C>T
NG_008838.3:g.282871C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7431C>T MANE Select	ENSP00000362441.4:p.Pro2477=
ENST00000675732.1:c.2529C>T	ENSP00000502598.1:p.Pro843=
ENST00000373344.9:c.7431C>T	ENSP00000362441.4:p.Pro2477=
ENST00000395603.7:c.7317C>T	ENSP00000378967.3:p.Pro2439=
ENST00000480283.5:c.*7059C>T	ENSP00000480196.1:n.*7059C>T
ENST00000623706.3:n.5751C>T
NM_000489.4:c.7431C>T	NP_000480.3:p.Pro2477=
NM_138270.3:c.7317C>T	NP_612114.2:p.Pro2439=
XM_005262153.3:c.7428C>T	XP_005262210.2:p.Pro2476=
XM_005262154.3:c.7344C>T	XP_005262211.2:p.Pro2448=
XM_005262155.3:c.7314C>T	XP_005262212.2:p.Pro2438=
XM_005262156.3:c.7266C>T	XP_005262213.2:p.Pro2422=
XM_005262157.3:c.7227C>T	XP_005262214.2:p.Pro2409=
XM_006724666.2:c.7314C>T	XP_006724729.1:p.Pro2438=
XM_006724667.2:c.7152C>T	XP_006724730.1:p.Pro2384=
XR_938400.1:n.9023C>T
NM_000489.5:c.7431C>T	NP_000480.3:p.Pro2477=
XM_005262153.5:c.7428C>T	XP_005262210.2:p.Pro2476=
XM_005262154.5:c.7344C>T	XP_005262211.2:p.Pro2448=
XM_005262155.4:c.7314C>T	XP_005262212.2:p.Pro2438=
XM_005262156.4:c.7266C>T	XP_005262213.2:p.Pro2422=
XM_005262157.5:c.7227C>T	XP_005262214.2:p.Pro2409=
XM_006724666.4:c.7314C>T	XP_006724729.1:p.Pro2438=
XM_006724667.3:c.7152C>T	XP_006724730.1:p.Pro2384=
XM_017029601.2:c.7341C>T	XP_016885090.1:p.Pro2447=
XM_017029602.1:c.7311C>T	XP_016885091.1:p.Pro2437=
XM_017029603.1:c.7263C>T	XP_016885092.1:p.Pro2421=
XM_017029604.2:c.7230C>T	XP_016885093.1:p.Pro2410=
XM_017029605.1:c.7227C>T	XP_016885094.1:p.Pro2409=
XM_017029606.2:c.7200C>T	XP_016885095.1:p.Pro2400=
XM_017029607.2:c.7197C>T	XP_016885096.1:p.Pro2399=
XM_017029608.2:c.7149C>T	XP_016885097.1:p.Pro2383=
XM_017029609.1:c.7113C>T	XP_016885098.1:p.Pro2371=
XM_017029610.1:c.7110C>T	XP_016885099.1:p.Pro2370=
XM_017029611.1:c.7065C>T	XP_016885100.1:p.Pro2355=
XR_001755700.2:n.7730C>T
NM_138270.4:c.7317C>T	NP_612114.2:p.Pro2439=
NM_000489.6:c.7431C>T MANE Select	NP_000480.3:p.Pro2477=
NM_138270.5:c.7317C>T	NP_612114.2:p.Pro2439=