Canonical Allele Identifier: CA413703725

Gene: ATRX

Linked Data

• gnomAD v4: X-77508409-C-A
• MyVariant Identifiers: chrX:g.76763887C>A (hg19) ; chrX:g.77508409C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508409C>A , CM000685.2:g.77508409C>A	GRCh38
NC_000023.10:g.76763887C>A , CM000685.1:g.76763887C>A	GRCh37
NC_000023.9:g.76650543C>A	NCBI36
NG_008838.2:g.282813G>T
NG_008838.3:g.282861G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7421G>T MANE Select	ENSP00000362441.4:p.Arg2474Leu
ENST00000675732.1:c.2519G>T	ENSP00000502598.1:p.Arg840Leu
ENST00000373344.9:c.7421G>T	ENSP00000362441.4:p.Arg2474Leu
ENST00000395603.7:c.7307G>T	ENSP00000378967.3:p.Arg2436Leu
ENST00000480283.5:c.*7049G>T	ENSP00000480196.1:n.*7049G>T
ENST00000623706.3:n.5741G>T
NM_000489.4:c.7421G>T	NP_000480.3:p.Arg2474Leu
NM_138270.3:c.7307G>T	NP_612114.2:p.Arg2436Leu
XM_005262153.3:c.7418G>T	XP_005262210.2:p.Arg2473Leu
XM_005262154.3:c.7334G>T	XP_005262211.2:p.Arg2445Leu
XM_005262155.3:c.7304G>T	XP_005262212.2:p.Arg2435Leu
XM_005262156.3:c.7256G>T	XP_005262213.2:p.Arg2419Leu
XM_005262157.3:c.7217G>T	XP_005262214.2:p.Arg2406Leu
XM_006724666.2:c.7304G>T	XP_006724729.1:p.Arg2435Leu
XM_006724667.2:c.7142G>T	XP_006724730.1:p.Arg2381Leu
XR_938400.1:n.9013G>T
NM_000489.5:c.7421G>T	NP_000480.3:p.Arg2474Leu
XM_005262153.5:c.7418G>T	XP_005262210.2:p.Arg2473Leu
XM_005262154.5:c.7334G>T	XP_005262211.2:p.Arg2445Leu
XM_005262155.4:c.7304G>T	XP_005262212.2:p.Arg2435Leu
XM_005262156.4:c.7256G>T	XP_005262213.2:p.Arg2419Leu
XM_005262157.5:c.7217G>T	XP_005262214.2:p.Arg2406Leu
XM_006724666.4:c.7304G>T	XP_006724729.1:p.Arg2435Leu
XM_006724667.3:c.7142G>T	XP_006724730.1:p.Arg2381Leu
XM_017029601.2:c.7331G>T	XP_016885090.1:p.Arg2444Leu
XM_017029602.1:c.7301G>T	XP_016885091.1:p.Arg2434Leu
XM_017029603.1:c.7253G>T	XP_016885092.1:p.Arg2418Leu
XM_017029604.2:c.7220G>T	XP_016885093.1:p.Arg2407Leu
XM_017029605.1:c.7217G>T	XP_016885094.1:p.Arg2406Leu
XM_017029606.2:c.7190G>T	XP_016885095.1:p.Arg2397Leu
XM_017029607.2:c.7187G>T	XP_016885096.1:p.Arg2396Leu
XM_017029608.2:c.7139G>T	XP_016885097.1:p.Arg2380Leu
XM_017029609.1:c.7103G>T	XP_016885098.1:p.Arg2368Leu
XM_017029610.1:c.7100G>T	XP_016885099.1:p.Arg2367Leu
XM_017029611.1:c.7055G>T	XP_016885100.1:p.Arg2352Leu
XR_001755700.2:n.7720G>T
NM_138270.4:c.7307G>T	NP_612114.2:p.Arg2436Leu
NM_000489.6:c.7421G>T MANE Select	NP_000480.3:p.Arg2474Leu
NM_138270.5:c.7307G>T	NP_612114.2:p.Arg2436Leu