Canonical Allele Identifier: CA413707148

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76776318T>A (hg19) ; chrX:g.77520840T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77520840T>A , CM000685.2:g.77520840T>A	GRCh38
NC_000023.10:g.76776318T>A , CM000685.1:g.76776318T>A	GRCh37
NC_000023.9:g.76662974T>A	NCBI36
NG_008838.2:g.270382A>T
NG_008838.3:g.270430A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000373344.11:c.7148A>T MANE Select	ENSP00000362441.4:p.Asp2383Val
ENST00000675732.1:c.2246A>T	ENSP00000502598.1:p.Asp749Val
ENST00000373344.9:c.7148A>T	ENSP00000362441.4:p.Asp2383Val
ENST00000395603.7:c.7034A>T	ENSP00000378967.3:p.Asp2345Val
ENST00000480283.5:c.*6776A>T	ENSP00000480196.1:n.*6776A>T
ENST00000623706.3:n.5468A>T
ENST00000624766.1:n.379A>T
NM_000489.4:c.7148A>T	NP_000480.3:p.Asp2383Val
NM_138270.3:c.7034A>T	NP_612114.2:p.Asp2345Val
XM_005262153.3:c.7145A>T	XP_005262210.2:p.Asp2382Val
XM_005262154.3:c.7061A>T	XP_005262211.2:p.Asp2354Val
XM_005262155.3:c.7031A>T	XP_005262212.2:p.Asp2344Val
XM_005262156.3:c.6983A>T	XP_005262213.2:p.Asp2328Val
XM_005262157.3:c.6944A>T	XP_005262214.2:p.Asp2315Val
XM_006724666.2:c.7031A>T	XP_006724729.1:p.Asp2344Val
XM_006724667.2:c.6869A>T	XP_006724730.1:p.Asp2290Val
XR_938400.1:n.8740A>T
NM_000489.5:c.7148A>T	NP_000480.3:p.Asp2383Val
XM_005262153.5:c.7145A>T	XP_005262210.2:p.Asp2382Val
XM_005262154.5:c.7061A>T	XP_005262211.2:p.Asp2354Val
XM_005262155.4:c.7031A>T	XP_005262212.2:p.Asp2344Val
XM_005262156.4:c.6983A>T	XP_005262213.2:p.Asp2328Val
XM_005262157.5:c.6944A>T	XP_005262214.2:p.Asp2315Val
XM_006724666.4:c.7031A>T	XP_006724729.1:p.Asp2344Val
XM_006724667.3:c.6869A>T	XP_006724730.1:p.Asp2290Val
XM_017029601.2:c.7058A>T	XP_016885090.1:p.Asp2353Val
XM_017029602.1:c.7028A>T	XP_016885091.1:p.Asp2343Val
XM_017029603.1:c.6980A>T	XP_016885092.1:p.Asp2327Val
XM_017029604.2:c.6947A>T	XP_016885093.1:p.Asp2316Val
XM_017029605.1:c.6944A>T	XP_016885094.1:p.Asp2315Val
XM_017029606.2:c.6917A>T	XP_016885095.1:p.Asp2306Val
XM_017029607.2:c.6914A>T	XP_016885096.1:p.Asp2305Val
XM_017029608.2:c.6866A>T	XP_016885097.1:p.Asp2289Val
XM_017029609.1:c.6830A>T	XP_016885098.1:p.Asp2277Val
XM_017029610.1:c.6827A>T	XP_016885099.1:p.Asp2276Val
XM_017029611.1:c.6782A>T	XP_016885100.1:p.Asp2261Val
XR_001755700.2:n.7447A>T
NM_138270.4:c.7034A>T	NP_612114.2:p.Asp2345Val
NM_000489.6:c.7148A>T MANE Select	NP_000480.3:p.Asp2383Val
NM_138270.5:c.7034A>T	NP_612114.2:p.Asp2345Val