Canonical Allele Identifier: CA517374011

Gene: ATRX

Linked Data

• ClinVar Variation Id: 2754567
• ClinVar RCV Id: RCV003511814
• MyVariant Identifiers: chrX:g.76763886A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508408A>G , CM000685.2:g.77508408A>G	GRCh38
NC_000023.10:g.76763886A>G , CM000685.1:g.76763886A>G	GRCh37
NC_000023.9:g.76650542A>G	NCBI36
NG_008838.2:g.282814T>C
NG_008838.3:g.282862T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7422T>C MANE Select	ENSP00000362441.4:p.Arg2474=
ENST00000675732.1:c.2520T>C	ENSP00000502598.1:p.Arg840=
ENST00000373344.9:c.7422T>C	ENSP00000362441.4:p.Arg2474=
ENST00000395603.7:c.7308T>C	ENSP00000378967.3:p.Arg2436=
ENST00000480283.5:c.*7050T>C	ENSP00000480196.1:n.*7050T>C
ENST00000623706.3:n.5742T>C
NM_000489.4:c.7422T>C	NP_000480.3:p.Arg2474=
NM_138270.3:c.7308T>C	NP_612114.2:p.Arg2436=
XM_005262153.3:c.7419T>C	XP_005262210.2:p.Arg2473=
XM_005262154.3:c.7335T>C	XP_005262211.2:p.Arg2445=
XM_005262155.3:c.7305T>C	XP_005262212.2:p.Arg2435=
XM_005262156.3:c.7257T>C	XP_005262213.2:p.Arg2419=
XM_005262157.3:c.7218T>C	XP_005262214.2:p.Arg2406=
XM_006724666.2:c.7305T>C	XP_006724729.1:p.Arg2435=
XM_006724667.2:c.7143T>C	XP_006724730.1:p.Arg2381=
XR_938400.1:n.9014T>C
NM_000489.5:c.7422T>C	NP_000480.3:p.Arg2474=
XM_005262153.5:c.7419T>C	XP_005262210.2:p.Arg2473=
XM_005262154.5:c.7335T>C	XP_005262211.2:p.Arg2445=
XM_005262155.4:c.7305T>C	XP_005262212.2:p.Arg2435=
XM_005262156.4:c.7257T>C	XP_005262213.2:p.Arg2419=
XM_005262157.5:c.7218T>C	XP_005262214.2:p.Arg2406=
XM_006724666.4:c.7305T>C	XP_006724729.1:p.Arg2435=
XM_006724667.3:c.7143T>C	XP_006724730.1:p.Arg2381=
XM_017029601.2:c.7332T>C	XP_016885090.1:p.Arg2444=
XM_017029602.1:c.7302T>C	XP_016885091.1:p.Arg2434=
XM_017029603.1:c.7254T>C	XP_016885092.1:p.Arg2418=
XM_017029604.2:c.7221T>C	XP_016885093.1:p.Arg2407=
XM_017029605.1:c.7218T>C	XP_016885094.1:p.Arg2406=
XM_017029606.2:c.7191T>C	XP_016885095.1:p.Arg2397=
XM_017029607.2:c.7188T>C	XP_016885096.1:p.Arg2396=
XM_017029608.2:c.7140T>C	XP_016885097.1:p.Arg2380=
XM_017029609.1:c.7104T>C	XP_016885098.1:p.Arg2368=
XM_017029610.1:c.7101T>C	XP_016885099.1:p.Arg2367=
XM_017029611.1:c.7056T>C	XP_016885100.1:p.Arg2352=
XR_001755700.2:n.7721T>C
NM_138270.4:c.7308T>C	NP_612114.2:p.Arg2436=
NM_000489.6:c.7422T>C MANE Select	NP_000480.3:p.Arg2474=
NM_138270.5:c.7308T>C	NP_612114.2:p.Arg2436=