Canonical Allele Identifier: CA413703701

Gene: ATRX

Linked Data

• dbSNP Id: rs2147646450
• MyVariant Identifiers: chrX:g.76763881G>A (hg19) ; chrX:g.77508403G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508403G>A , CM000685.2:g.77508403G>A	GRCh38
NC_000023.10:g.76763881G>A , CM000685.1:g.76763881G>A	GRCh37
NC_000023.9:g.76650537G>A	NCBI36
NG_008838.2:g.282819C>T
NG_008838.3:g.282867C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7427C>T MANE Select	ENSP00000362441.4:p.Pro2476Leu
ENST00000675732.1:c.2525C>T	ENSP00000502598.1:p.Pro842Leu
ENST00000373344.9:c.7427C>T	ENSP00000362441.4:p.Pro2476Leu
ENST00000395603.7:c.7313C>T	ENSP00000378967.3:p.Pro2438Leu
ENST00000480283.5:c.*7055C>T	ENSP00000480196.1:n.*7055C>T
ENST00000623706.3:n.5747C>T
NM_000489.4:c.7427C>T	NP_000480.3:p.Pro2476Leu
NM_138270.3:c.7313C>T	NP_612114.2:p.Pro2438Leu
XM_005262153.3:c.7424C>T	XP_005262210.2:p.Pro2475Leu
XM_005262154.3:c.7340C>T	XP_005262211.2:p.Pro2447Leu
XM_005262155.3:c.7310C>T	XP_005262212.2:p.Pro2437Leu
XM_005262156.3:c.7262C>T	XP_005262213.2:p.Pro2421Leu
XM_005262157.3:c.7223C>T	XP_005262214.2:p.Pro2408Leu
XM_006724666.2:c.7310C>T	XP_006724729.1:p.Pro2437Leu
XM_006724667.2:c.7148C>T	XP_006724730.1:p.Pro2383Leu
XR_938400.1:n.9019C>T
NM_000489.5:c.7427C>T	NP_000480.3:p.Pro2476Leu
XM_005262153.5:c.7424C>T	XP_005262210.2:p.Pro2475Leu
XM_005262154.5:c.7340C>T	XP_005262211.2:p.Pro2447Leu
XM_005262155.4:c.7310C>T	XP_005262212.2:p.Pro2437Leu
XM_005262156.4:c.7262C>T	XP_005262213.2:p.Pro2421Leu
XM_005262157.5:c.7223C>T	XP_005262214.2:p.Pro2408Leu
XM_006724666.4:c.7310C>T	XP_006724729.1:p.Pro2437Leu
XM_006724667.3:c.7148C>T	XP_006724730.1:p.Pro2383Leu
XM_017029601.2:c.7337C>T	XP_016885090.1:p.Pro2446Leu
XM_017029602.1:c.7307C>T	XP_016885091.1:p.Pro2436Leu
XM_017029603.1:c.7259C>T	XP_016885092.1:p.Pro2420Leu
XM_017029604.2:c.7226C>T	XP_016885093.1:p.Pro2409Leu
XM_017029605.1:c.7223C>T	XP_016885094.1:p.Pro2408Leu
XM_017029606.2:c.7196C>T	XP_016885095.1:p.Pro2399Leu
XM_017029607.2:c.7193C>T	XP_016885096.1:p.Pro2398Leu
XM_017029608.2:c.7145C>T	XP_016885097.1:p.Pro2382Leu
XM_017029609.1:c.7109C>T	XP_016885098.1:p.Pro2370Leu
XM_017029610.1:c.7106C>T	XP_016885099.1:p.Pro2369Leu
XM_017029611.1:c.7061C>T	XP_016885100.1:p.Pro2354Leu
XR_001755700.2:n.7726C>T
NM_138270.4:c.7313C>T	NP_612114.2:p.Pro2438Leu
NM_000489.6:c.7427C>T MANE Select	NP_000480.3:p.Pro2476Leu
NM_138270.5:c.7313C>T	NP_612114.2:p.Pro2438Leu