Canonical Allele Identifier: CA413704354

Gene: ATRX

Linked Data

• gnomAD v4: X-77508497-T-A
• MyVariant Identifiers: chrX:g.76763975T>A (hg19) ; chrX:g.77508497T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7333A>T MANE Select	ENSP00000362441.4:p.Ile2445Phe
ENST00000675732.1:c.2431A>T	ENSP00000502598.1:p.Ile811Phe
ENST00000373344.9:c.7333A>T	ENSP00000362441.4:p.Ile2445Phe
ENST00000395603.7:c.7219A>T	ENSP00000378967.3:p.Ile2407Phe
ENST00000480283.5:c.*6961A>T	ENSP00000480196.1:n.*6961A>T
ENST00000623706.3:n.5653A>T
ENST00000624766.1:n.564A>T
NM_000489.4:c.7333A>T	NP_000480.3:p.Ile2445Phe
NM_138270.3:c.7219A>T	NP_612114.2:p.Ile2407Phe
XM_005262153.3:c.7330A>T	XP_005262210.2:p.Ile2444Phe
XM_005262154.3:c.7246A>T	XP_005262211.2:p.Ile2416Phe
XM_005262155.3:c.7216A>T	XP_005262212.2:p.Ile2406Phe
XM_005262156.3:c.7168A>T	XP_005262213.2:p.Ile2390Phe
XM_005262157.3:c.7129A>T	XP_005262214.2:p.Ile2377Phe
XM_006724666.2:c.7216A>T	XP_006724729.1:p.Ile2406Phe
XM_006724667.2:c.7054A>T	XP_006724730.1:p.Ile2352Phe
XR_938400.1:n.8925A>T
NM_000489.5:c.7333A>T	NP_000480.3:p.Ile2445Phe
XM_005262153.5:c.7330A>T	XP_005262210.2:p.Ile2444Phe
XM_005262154.5:c.7246A>T	XP_005262211.2:p.Ile2416Phe
XM_005262155.4:c.7216A>T	XP_005262212.2:p.Ile2406Phe
XM_005262156.4:c.7168A>T	XP_005262213.2:p.Ile2390Phe
XM_005262157.5:c.7129A>T	XP_005262214.2:p.Ile2377Phe
XM_006724666.4:c.7216A>T	XP_006724729.1:p.Ile2406Phe
XM_006724667.3:c.7054A>T	XP_006724730.1:p.Ile2352Phe
XM_017029601.2:c.7243A>T	XP_016885090.1:p.Ile2415Phe
XM_017029602.1:c.7213A>T	XP_016885091.1:p.Ile2405Phe
XM_017029603.1:c.7165A>T	XP_016885092.1:p.Ile2389Phe
XM_017029604.2:c.7132A>T	XP_016885093.1:p.Ile2378Phe
XM_017029605.1:c.7129A>T	XP_016885094.1:p.Ile2377Phe
XM_017029606.2:c.7102A>T	XP_016885095.1:p.Ile2368Phe
XM_017029607.2:c.7099A>T	XP_016885096.1:p.Ile2367Phe
XM_017029608.2:c.7051A>T	XP_016885097.1:p.Ile2351Phe
XM_017029609.1:c.7015A>T	XP_016885098.1:p.Ile2339Phe
XM_017029610.1:c.7012A>T	XP_016885099.1:p.Ile2338Phe
XM_017029611.1:c.6967A>T	XP_016885100.1:p.Ile2323Phe
XR_001755700.2:n.7632A>T
NM_138270.4:c.7219A>T	NP_612114.2:p.Ile2407Phe
NM_000489.6:c.7333A>T MANE Select	NP_000480.3:p.Ile2445Phe
NM_138270.5:c.7219A>T	NP_612114.2:p.Ile2407Phe