Canonical Allele Identifier: CA413703607

Gene: ATRX

Linked Data

• dbSNP Id: rs2147646140
• MyVariant Identifiers: chrX:g.76763871C>A (hg19) ; chrX:g.77508393C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508393C>A , CM000685.2:g.77508393C>A	GRCh38
NC_000023.10:g.76763871C>A , CM000685.1:g.76763871C>A	GRCh37
NC_000023.9:g.76650527C>A	NCBI36
NG_008838.2:g.282829G>T
NG_008838.3:g.282877G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7437G>T MANE Select	ENSP00000362441.4:p.Met2479Ile
ENST00000675732.1:c.2535G>T	ENSP00000502598.1:p.Met845Ile
ENST00000373344.9:c.7437G>T	ENSP00000362441.4:p.Met2479Ile
ENST00000395603.7:c.7323G>T	ENSP00000378967.3:p.Met2441Ile
ENST00000480283.5:c.*7065G>T	ENSP00000480196.1:n.*7065G>T
ENST00000623706.3:n.5757G>T
NM_000489.4:c.7437G>T	NP_000480.3:p.Met2479Ile
NM_138270.3:c.7323G>T	NP_612114.2:p.Met2441Ile
XM_005262153.3:c.7434G>T	XP_005262210.2:p.Met2478Ile
XM_005262154.3:c.7350G>T	XP_005262211.2:p.Met2450Ile
XM_005262155.3:c.7320G>T	XP_005262212.2:p.Met2440Ile
XM_005262156.3:c.7272G>T	XP_005262213.2:p.Met2424Ile
XM_005262157.3:c.7233G>T	XP_005262214.2:p.Met2411Ile
XM_006724666.2:c.7320G>T	XP_006724729.1:p.Met2440Ile
XM_006724667.2:c.7158G>T	XP_006724730.1:p.Met2386Ile
XR_938400.1:n.9029G>T
NM_000489.5:c.7437G>T	NP_000480.3:p.Met2479Ile
XM_005262153.5:c.7434G>T	XP_005262210.2:p.Met2478Ile
XM_005262154.5:c.7350G>T	XP_005262211.2:p.Met2450Ile
XM_005262155.4:c.7320G>T	XP_005262212.2:p.Met2440Ile
XM_005262156.4:c.7272G>T	XP_005262213.2:p.Met2424Ile
XM_005262157.5:c.7233G>T	XP_005262214.2:p.Met2411Ile
XM_006724666.4:c.7320G>T	XP_006724729.1:p.Met2440Ile
XM_006724667.3:c.7158G>T	XP_006724730.1:p.Met2386Ile
XM_017029601.2:c.7347G>T	XP_016885090.1:p.Met2449Ile
XM_017029602.1:c.7317G>T	XP_016885091.1:p.Met2439Ile
XM_017029603.1:c.7269G>T	XP_016885092.1:p.Met2423Ile
XM_017029604.2:c.7236G>T	XP_016885093.1:p.Met2412Ile
XM_017029605.1:c.7233G>T	XP_016885094.1:p.Met2411Ile
XM_017029606.2:c.7206G>T	XP_016885095.1:p.Met2402Ile
XM_017029607.2:c.7203G>T	XP_016885096.1:p.Met2401Ile
XM_017029608.2:c.7155G>T	XP_016885097.1:p.Met2385Ile
XM_017029609.1:c.7119G>T	XP_016885098.1:p.Met2373Ile
XM_017029610.1:c.7116G>T	XP_016885099.1:p.Met2372Ile
XM_017029611.1:c.7071G>T	XP_016885100.1:p.Met2357Ile
XR_001755700.2:n.7736G>T
NM_138270.4:c.7323G>T	NP_612114.2:p.Met2441Ile
NM_000489.6:c.7437G>T MANE Select	NP_000480.3:p.Met2479Ile
NM_138270.5:c.7323G>T	NP_612114.2:p.Met2441Ile