Canonical Allele Identifier: CA413704008

Gene: ATRX

Linked Data

• dbSNP Id: rs2063438795
• MyVariant Identifiers: chrX:g.76763927G>A (hg19) ; chrX:g.77508449G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508449G>A , CM000685.2:g.77508449G>A	GRCh38
NC_000023.10:g.76763927G>A , CM000685.1:g.76763927G>A	GRCh37
NC_000023.9:g.76650583G>A	NCBI36
NG_008838.2:g.282773C>T
NG_008838.3:g.282821C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7381C>T MANE Select	ENSP00000362441.4:p.Gln2461Ter
ENST00000675732.1:c.2479C>T	ENSP00000502598.1:p.Gln827Ter
ENST00000373344.9:c.7381C>T	ENSP00000362441.4:p.Gln2461Ter
ENST00000395603.7:c.7267C>T	ENSP00000378967.3:p.Gln2423Ter
ENST00000480283.5:c.*7009C>T	ENSP00000480196.1:n.*7009C>T
ENST00000623706.3:n.5701C>T
NM_000489.4:c.7381C>T	NP_000480.3:p.Gln2461Ter
NM_138270.3:c.7267C>T	NP_612114.2:p.Gln2423Ter
XM_005262153.3:c.7378C>T	XP_005262210.2:p.Gln2460Ter
XM_005262154.3:c.7294C>T	XP_005262211.2:p.Gln2432Ter
XM_005262155.3:c.7264C>T	XP_005262212.2:p.Gln2422Ter
XM_005262156.3:c.7216C>T	XP_005262213.2:p.Gln2406Ter
XM_005262157.3:c.7177C>T	XP_005262214.2:p.Gln2393Ter
XM_006724666.2:c.7264C>T	XP_006724729.1:p.Gln2422Ter
XM_006724667.2:c.7102C>T	XP_006724730.1:p.Gln2368Ter
XR_938400.1:n.8973C>T
NM_000489.5:c.7381C>T	NP_000480.3:p.Gln2461Ter
XM_005262153.5:c.7378C>T	XP_005262210.2:p.Gln2460Ter
XM_005262154.5:c.7294C>T	XP_005262211.2:p.Gln2432Ter
XM_005262155.4:c.7264C>T	XP_005262212.2:p.Gln2422Ter
XM_005262156.4:c.7216C>T	XP_005262213.2:p.Gln2406Ter
XM_005262157.5:c.7177C>T	XP_005262214.2:p.Gln2393Ter
XM_006724666.4:c.7264C>T	XP_006724729.1:p.Gln2422Ter
XM_006724667.3:c.7102C>T	XP_006724730.1:p.Gln2368Ter
XM_017029601.2:c.7291C>T	XP_016885090.1:p.Gln2431Ter
XM_017029602.1:c.7261C>T	XP_016885091.1:p.Gln2421Ter
XM_017029603.1:c.7213C>T	XP_016885092.1:p.Gln2405Ter
XM_017029604.2:c.7180C>T	XP_016885093.1:p.Gln2394Ter
XM_017029605.1:c.7177C>T	XP_016885094.1:p.Gln2393Ter
XM_017029606.2:c.7150C>T	XP_016885095.1:p.Gln2384Ter
XM_017029607.2:c.7147C>T	XP_016885096.1:p.Gln2383Ter
XM_017029608.2:c.7099C>T	XP_016885097.1:p.Gln2367Ter
XM_017029609.1:c.7063C>T	XP_016885098.1:p.Gln2355Ter
XM_017029610.1:c.7060C>T	XP_016885099.1:p.Gln2354Ter
XM_017029611.1:c.7015C>T	XP_016885100.1:p.Gln2339Ter
XR_001755700.2:n.7680C>T
NM_138270.4:c.7267C>T	NP_612114.2:p.Gln2423Ter
NM_000489.6:c.7381C>T MANE Select	NP_000480.3:p.Gln2461Ter
NM_138270.5:c.7267C>T	NP_612114.2:p.Gln2423Ter