Canonical Allele Identifier: CA413704424

Gene: ATRX

Linked Data

• gnomAD v4: X-77508505-G-T
• MyVariant Identifiers: chrX:g.76763983G>T (hg19) ; chrX:g.77508505G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508505G>T , CM000685.2:g.77508505G>T	GRCh38
NC_000023.10:g.76763983G>T , CM000685.1:g.76763983G>T	GRCh37
NC_000023.9:g.76650639G>T	NCBI36
NG_008838.2:g.282717C>A
NG_008838.3:g.282765C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7325C>A MANE Select	ENSP00000362441.4:p.Pro2442Gln
ENST00000675732.1:c.2423C>A	ENSP00000502598.1:p.Pro808Gln
ENST00000373344.9:c.7325C>A	ENSP00000362441.4:p.Pro2442Gln
ENST00000395603.7:c.7211C>A	ENSP00000378967.3:p.Pro2404Gln
ENST00000480283.5:c.*6953C>A	ENSP00000480196.1:n.*6953C>A
ENST00000623706.3:n.5645C>A
ENST00000624766.1:n.556C>A
NM_000489.4:c.7325C>A	NP_000480.3:p.Pro2442Gln
NM_138270.3:c.7211C>A	NP_612114.2:p.Pro2404Gln
XM_005262153.3:c.7322C>A	XP_005262210.2:p.Pro2441Gln
XM_005262154.3:c.7238C>A	XP_005262211.2:p.Pro2413Gln
XM_005262155.3:c.7208C>A	XP_005262212.2:p.Pro2403Gln
XM_005262156.3:c.7160C>A	XP_005262213.2:p.Pro2387Gln
XM_005262157.3:c.7121C>A	XP_005262214.2:p.Pro2374Gln
XM_006724666.2:c.7208C>A	XP_006724729.1:p.Pro2403Gln
XM_006724667.2:c.7046C>A	XP_006724730.1:p.Pro2349Gln
XR_938400.1:n.8917C>A
NM_000489.5:c.7325C>A	NP_000480.3:p.Pro2442Gln
XM_005262153.5:c.7322C>A	XP_005262210.2:p.Pro2441Gln
XM_005262154.5:c.7238C>A	XP_005262211.2:p.Pro2413Gln
XM_005262155.4:c.7208C>A	XP_005262212.2:p.Pro2403Gln
XM_005262156.4:c.7160C>A	XP_005262213.2:p.Pro2387Gln
XM_005262157.5:c.7121C>A	XP_005262214.2:p.Pro2374Gln
XM_006724666.4:c.7208C>A	XP_006724729.1:p.Pro2403Gln
XM_006724667.3:c.7046C>A	XP_006724730.1:p.Pro2349Gln
XM_017029601.2:c.7235C>A	XP_016885090.1:p.Pro2412Gln
XM_017029602.1:c.7205C>A	XP_016885091.1:p.Pro2402Gln
XM_017029603.1:c.7157C>A	XP_016885092.1:p.Pro2386Gln
XM_017029604.2:c.7124C>A	XP_016885093.1:p.Pro2375Gln
XM_017029605.1:c.7121C>A	XP_016885094.1:p.Pro2374Gln
XM_017029606.2:c.7094C>A	XP_016885095.1:p.Pro2365Gln
XM_017029607.2:c.7091C>A	XP_016885096.1:p.Pro2364Gln
XM_017029608.2:c.7043C>A	XP_016885097.1:p.Pro2348Gln
XM_017029609.1:c.7007C>A	XP_016885098.1:p.Pro2336Gln
XM_017029610.1:c.7004C>A	XP_016885099.1:p.Pro2335Gln
XM_017029611.1:c.6959C>A	XP_016885100.1:p.Pro2320Gln
XR_001755700.2:n.7624C>A
NM_138270.4:c.7211C>A	NP_612114.2:p.Pro2404Gln
NM_000489.6:c.7325C>A MANE Select	NP_000480.3:p.Pro2442Gln
NM_138270.5:c.7211C>A	NP_612114.2:p.Pro2404Gln