Canonical Allele Identifier: CA413709027

Gene: ATRX

Linked Data

• ClinVar Variation Id: 431097
• ClinVar RCV Id: RCV000496193
• dbSNP Id: rs1135401774
• gnomAD v4: X-77522375-C-T
• MyVariant Identifiers: chrX:g.76777853C>T (hg19) ; chrX:g.77522375C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77522375C>T , CM000685.2:g.77522375C>T	GRCh38
NC_000023.10:g.76777853C>T , CM000685.1:g.76777853C>T	GRCh37
NC_000023.9:g.76664509C>T	NCBI36
NG_008838.2:g.268847G>A
NG_008838.3:g.268895G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6863G>A MANE Select	ENSP00000362441.4:p.Arg2288His
ENST00000675732.1:c.1961G>A	ENSP00000502598.1:p.Arg654His
ENST00000373344.9:c.6863G>A	ENSP00000362441.4:p.Arg2288His
ENST00000395603.7:c.6749G>A	ENSP00000378967.3:p.Arg2250His
ENST00000480283.5:c.*6491G>A	ENSP00000480196.1:n.*6491G>A
ENST00000623706.3:n.3933G>A
ENST00000624766.1:n.94G>A
NM_000489.4:c.6863G>A	NP_000480.3:p.Arg2288His
NM_138270.3:c.6749G>A	NP_612114.2:p.Arg2250His
XM_005262153.3:c.6860G>A	XP_005262210.2:p.Arg2287His
XM_005262154.3:c.6776G>A	XP_005262211.2:p.Arg2259His
XM_005262155.3:c.6746G>A	XP_005262212.2:p.Arg2249His
XM_005262156.3:c.6698G>A	XP_005262213.2:p.Arg2233His
XM_005262157.3:c.6659G>A	XP_005262214.2:p.Arg2220His
XM_006724666.2:c.6746G>A	XP_006724729.1:p.Arg2249His
XM_006724667.2:c.6584G>A	XP_006724730.1:p.Arg2195His
XR_938400.1:n.7205G>A
NM_000489.5:c.6863G>A	NP_000480.3:p.Arg2288His
XM_005262153.5:c.6860G>A	XP_005262210.2:p.Arg2287His
XM_005262154.5:c.6776G>A	XP_005262211.2:p.Arg2259His
XM_005262155.4:c.6746G>A	XP_005262212.2:p.Arg2249His
XM_005262156.4:c.6698G>A	XP_005262213.2:p.Arg2233His
XM_005262157.5:c.6659G>A	XP_005262214.2:p.Arg2220His
XM_006724666.4:c.6746G>A	XP_006724729.1:p.Arg2249His
XM_006724667.3:c.6584G>A	XP_006724730.1:p.Arg2195His
XM_017029601.2:c.6773G>A	XP_016885090.1:p.Arg2258His
XM_017029602.1:c.6743G>A	XP_016885091.1:p.Arg2248His
XM_017029603.1:c.6695G>A	XP_016885092.1:p.Arg2232His
XM_017029604.2:c.6662G>A	XP_016885093.1:p.Arg2221His
XM_017029605.1:c.6659G>A	XP_016885094.1:p.Arg2220His
XM_017029606.2:c.6632G>A	XP_016885095.1:p.Arg2211His
XM_017029607.2:c.6629G>A	XP_016885096.1:p.Arg2210His
XM_017029608.2:c.6581G>A	XP_016885097.1:p.Arg2194His
XM_017029609.1:c.6545G>A	XP_016885098.1:p.Arg2182His
XM_017029610.1:c.6542G>A	XP_016885099.1:p.Arg2181His
XM_017029611.1:c.6497G>A	XP_016885100.1:p.Arg2166His
XR_001755700.2:n.7162G>A
NM_138270.4:c.6749G>A	NP_612114.2:p.Arg2250His
NM_000489.6:c.6863G>A MANE Select	NP_000480.3:p.Arg2288His
NM_138270.5:c.6749G>A	NP_612114.2:p.Arg2250His