Canonical Allele Identifier: CA233506

Gene: ATRX

Linked Data

• ClinVar Variation Id: 166714
• ClinVar RCV Id: RCV000202782 ; RCV000640853 ; RCV001706009 ; RCV002505160 ; RCV004544390 ; RCV002426727
• dbSNP Id: rs61752456
• ExAC: X:76938579 C / G
• gnomAD v2: X-76938579-C-G
• gnomAD v3: X-77683087-C-G
• gnomAD v4: X-77683087-C-G
• MyVariant Identifiers: chrX:g.76938579C>G (hg19) ; chrX:g.77683087C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77683087C>G , CM000685.2:g.77683087C>G	GRCh38
NC_000023.10:g.76938579C>G , CM000685.1:g.76938579C>G	GRCh37
NC_000023.9:g.76825235C>G	NCBI36
NG_008838.2:g.108135G>C
NG_008838.3:g.108183G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.2169G>C MANE Select	ENSP00000362441.4:p.Glu723Asp
ENST00000373344.9:c.2169G>C	ENSP00000362441.4:p.Glu723Asp
ENST00000395603.7:c.2055G>C	ENSP00000378967.3:p.Glu685Asp
ENST00000480283.5:c.*1797G>C	ENSP00000480196.1:n.*1797G>C
ENST00000624032.3:c.2082G>C	ENSP00000485253.1:p.Glu694Asp
ENST00000624166.3:c.1965G>C	ENSP00000485103.1:p.Glu655Asp
NM_000489.4:c.2169G>C	NP_000480.3:p.Glu723Asp
NM_138270.3:c.2055G>C	NP_612114.2:p.Glu685Asp
XM_005262153.3:c.2166G>C	XP_005262210.2:p.Glu722Asp
XM_005262154.3:c.2082G>C	XP_005262211.2:p.Glu694Asp
XM_005262155.3:c.2052G>C	XP_005262212.2:p.Glu684Asp
XM_005262156.3:c.2004G>C	XP_005262213.2:p.Glu668Asp
XM_005262157.3:c.1965G>C	XP_005262214.2:p.Glu655Asp
XM_006724666.2:c.2052G>C	XP_006724729.1:p.Glu684Asp
XM_006724667.2:c.1890G>C	XP_006724730.1:p.Glu630Asp
XM_006724668.2:c.2169G>C	XP_006724731.1:p.Glu723Asp
XR_938400.1:n.2437G>C
NM_000489.5:c.2169G>C	NP_000480.3:p.Glu723Asp
XM_005262153.5:c.2166G>C	XP_005262210.2:p.Glu722Asp
XM_005262154.5:c.2082G>C	XP_005262211.2:p.Glu694Asp
XM_005262155.4:c.2052G>C	XP_005262212.2:p.Glu684Asp
XM_005262156.4:c.2004G>C	XP_005262213.2:p.Glu668Asp
XM_005262157.5:c.1965G>C	XP_005262214.2:p.Glu655Asp
XM_006724666.4:c.2052G>C	XP_006724729.1:p.Glu684Asp
XM_006724667.3:c.1890G>C	XP_006724730.1:p.Glu630Asp
XM_006724668.3:c.2169G>C	XP_006724731.1:p.Glu723Asp
XM_017029601.2:c.2079G>C	XP_016885090.1:p.Glu693Asp
XM_017029602.1:c.2049G>C	XP_016885091.1:p.Glu683Asp
XM_017029603.1:c.2001G>C	XP_016885092.1:p.Glu667Asp
XM_017029604.2:c.1968G>C	XP_016885093.1:p.Glu656Asp
XM_017029605.1:c.1965G>C	XP_016885094.1:p.Glu655Asp
XM_017029606.2:c.1938G>C	XP_016885095.1:p.Glu646Asp
XM_017029607.2:c.1935G>C	XP_016885096.1:p.Glu645Asp
XM_017029608.2:c.1887G>C	XP_016885097.1:p.Glu629Asp
XM_017029609.1:c.1851G>C	XP_016885098.1:p.Glu617Asp
XM_017029610.1:c.1848G>C	XP_016885099.1:p.Glu616Asp
XM_017029611.1:c.1803G>C	XP_016885100.1:p.Glu601Asp
XR_001755700.2:n.2394G>C
NM_138270.4:c.2055G>C	NP_612114.2:p.Glu685Asp
NM_000489.6:c.2169G>C MANE Select	NP_000480.3:p.Glu723Asp
NM_138270.5:c.2055G>C	NP_612114.2:p.Glu685Asp