Canonical Allele Identifier: CA413704495

Gene: ATRX

Linked Data

• gnomAD v4: X-77508512-T-G
• MyVariant Identifiers: chrX:g.76763990T>G (hg19) ; chrX:g.77508512T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508512T>G , CM000685.2:g.77508512T>G	GRCh38
NC_000023.10:g.76763990T>G , CM000685.1:g.76763990T>G	GRCh37
NC_000023.9:g.76650646T>G	NCBI36
NG_008838.2:g.282710A>C
NG_008838.3:g.282758A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7318A>C MANE Select	ENSP00000362441.4:p.Lys2440Gln
ENST00000675732.1:c.2416A>C	ENSP00000502598.1:p.Lys806Gln
ENST00000373344.9:c.7318A>C	ENSP00000362441.4:p.Lys2440Gln
ENST00000395603.7:c.7204A>C	ENSP00000378967.3:p.Lys2402Gln
ENST00000480283.5:c.*6946A>C	ENSP00000480196.1:n.*6946A>C
ENST00000623706.3:n.5638A>C
ENST00000624766.1:n.549A>C
NM_000489.4:c.7318A>C	NP_000480.3:p.Lys2440Gln
NM_138270.3:c.7204A>C	NP_612114.2:p.Lys2402Gln
XM_005262153.3:c.7315A>C	XP_005262210.2:p.Lys2439Gln
XM_005262154.3:c.7231A>C	XP_005262211.2:p.Lys2411Gln
XM_005262155.3:c.7201A>C	XP_005262212.2:p.Lys2401Gln
XM_005262156.3:c.7153A>C	XP_005262213.2:p.Lys2385Gln
XM_005262157.3:c.7114A>C	XP_005262214.2:p.Lys2372Gln
XM_006724666.2:c.7201A>C	XP_006724729.1:p.Lys2401Gln
XM_006724667.2:c.7039A>C	XP_006724730.1:p.Lys2347Gln
XR_938400.1:n.8910A>C
NM_000489.5:c.7318A>C	NP_000480.3:p.Lys2440Gln
XM_005262153.5:c.7315A>C	XP_005262210.2:p.Lys2439Gln
XM_005262154.5:c.7231A>C	XP_005262211.2:p.Lys2411Gln
XM_005262155.4:c.7201A>C	XP_005262212.2:p.Lys2401Gln
XM_005262156.4:c.7153A>C	XP_005262213.2:p.Lys2385Gln
XM_005262157.5:c.7114A>C	XP_005262214.2:p.Lys2372Gln
XM_006724666.4:c.7201A>C	XP_006724729.1:p.Lys2401Gln
XM_006724667.3:c.7039A>C	XP_006724730.1:p.Lys2347Gln
XM_017029601.2:c.7228A>C	XP_016885090.1:p.Lys2410Gln
XM_017029602.1:c.7198A>C	XP_016885091.1:p.Lys2400Gln
XM_017029603.1:c.7150A>C	XP_016885092.1:p.Lys2384Gln
XM_017029604.2:c.7117A>C	XP_016885093.1:p.Lys2373Gln
XM_017029605.1:c.7114A>C	XP_016885094.1:p.Lys2372Gln
XM_017029606.2:c.7087A>C	XP_016885095.1:p.Lys2363Gln
XM_017029607.2:c.7084A>C	XP_016885096.1:p.Lys2362Gln
XM_017029608.2:c.7036A>C	XP_016885097.1:p.Lys2346Gln
XM_017029609.1:c.7000A>C	XP_016885098.1:p.Lys2334Gln
XM_017029610.1:c.6997A>C	XP_016885099.1:p.Lys2333Gln
XM_017029611.1:c.6952A>C	XP_016885100.1:p.Lys2318Gln
XR_001755700.2:n.7617A>C
NM_138270.4:c.7204A>C	NP_612114.2:p.Lys2402Gln
NM_000489.6:c.7318A>C MANE Select	NP_000480.3:p.Lys2440Gln
NM_138270.5:c.7204A>C	NP_612114.2:p.Lys2402Gln