Canonical Allele Identifier: CA10457394

Gene: ATRX

Linked Data

• dbSNP Id: rs782094199
• ExAC: X:76763975 T / C
• MyVariant Identifiers: chrX:g.76763975T>C (hg19) ; chrX:g.77508497T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508497T>C , CM000685.2:g.77508497T>C	GRCh38
NC_000023.10:g.76763975T>C , CM000685.1:g.76763975T>C	GRCh37
NC_000023.9:g.76650631T>C	NCBI36
NG_008838.2:g.282725A>G
NG_008838.3:g.282773A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7333A>G MANE Select	ENSP00000362441.4:p.Ile2445Val
ENST00000675732.1:c.2431A>G	ENSP00000502598.1:p.Ile811Val
ENST00000373344.9:c.7333A>G	ENSP00000362441.4:p.Ile2445Val
ENST00000395603.7:c.7219A>G	ENSP00000378967.3:p.Ile2407Val
ENST00000480283.5:c.*6961A>G	ENSP00000480196.1:n.*6961A>G
ENST00000623706.3:n.5653A>G
ENST00000624766.1:n.564A>G
NM_000489.4:c.7333A>G	NP_000480.3:p.Ile2445Val
NM_138270.3:c.7219A>G	NP_612114.2:p.Ile2407Val
XM_005262153.3:c.7330A>G	XP_005262210.2:p.Ile2444Val
XM_005262154.3:c.7246A>G	XP_005262211.2:p.Ile2416Val
XM_005262155.3:c.7216A>G	XP_005262212.2:p.Ile2406Val
XM_005262156.3:c.7168A>G	XP_005262213.2:p.Ile2390Val
XM_005262157.3:c.7129A>G	XP_005262214.2:p.Ile2377Val
XM_006724666.2:c.7216A>G	XP_006724729.1:p.Ile2406Val
XM_006724667.2:c.7054A>G	XP_006724730.1:p.Ile2352Val
XR_938400.1:n.8925A>G
NM_000489.5:c.7333A>G	NP_000480.3:p.Ile2445Val
XM_005262153.5:c.7330A>G	XP_005262210.2:p.Ile2444Val
XM_005262154.5:c.7246A>G	XP_005262211.2:p.Ile2416Val
XM_005262155.4:c.7216A>G	XP_005262212.2:p.Ile2406Val
XM_005262156.4:c.7168A>G	XP_005262213.2:p.Ile2390Val
XM_005262157.5:c.7129A>G	XP_005262214.2:p.Ile2377Val
XM_006724666.4:c.7216A>G	XP_006724729.1:p.Ile2406Val
XM_006724667.3:c.7054A>G	XP_006724730.1:p.Ile2352Val
XM_017029601.2:c.7243A>G	XP_016885090.1:p.Ile2415Val
XM_017029602.1:c.7213A>G	XP_016885091.1:p.Ile2405Val
XM_017029603.1:c.7165A>G	XP_016885092.1:p.Ile2389Val
XM_017029604.2:c.7132A>G	XP_016885093.1:p.Ile2378Val
XM_017029605.1:c.7129A>G	XP_016885094.1:p.Ile2377Val
XM_017029606.2:c.7102A>G	XP_016885095.1:p.Ile2368Val
XM_017029607.2:c.7099A>G	XP_016885096.1:p.Ile2367Val
XM_017029608.2:c.7051A>G	XP_016885097.1:p.Ile2351Val
XM_017029609.1:c.7015A>G	XP_016885098.1:p.Ile2339Val
XM_017029610.1:c.7012A>G	XP_016885099.1:p.Ile2338Val
XM_017029611.1:c.6967A>G	XP_016885100.1:p.Ile2323Val
XR_001755700.2:n.7632A>G
NM_138270.4:c.7219A>G	NP_612114.2:p.Ile2407Val
NM_000489.6:c.7333A>G MANE Select	NP_000480.3:p.Ile2445Val
NM_138270.5:c.7219A>G	NP_612114.2:p.Ile2407Val