Canonical Allele Identifier: CA413704079

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763939T>A (hg19) ; chrX:g.77508461T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508461T>A , CM000685.2:g.77508461T>A	GRCh38
NC_000023.10:g.76763939T>A , CM000685.1:g.76763939T>A	GRCh37
NC_000023.9:g.76650595T>A	NCBI36
NG_008838.2:g.282761A>T
NG_008838.3:g.282809A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7369A>T MANE Select	ENSP00000362441.4:p.Arg2457Ter
ENST00000675732.1:c.2467A>T	ENSP00000502598.1:p.Arg823Ter
ENST00000373344.9:c.7369A>T	ENSP00000362441.4:p.Arg2457Ter
ENST00000395603.7:c.7255A>T	ENSP00000378967.3:p.Arg2419Ter
ENST00000480283.5:c.*6997A>T	ENSP00000480196.1:n.*6997A>T
ENST00000623706.3:n.5689A>T
NM_000489.4:c.7369A>T	NP_000480.3:p.Arg2457Ter
NM_138270.3:c.7255A>T	NP_612114.2:p.Arg2419Ter
XM_005262153.3:c.7366A>T	XP_005262210.2:p.Arg2456Ter
XM_005262154.3:c.7282A>T	XP_005262211.2:p.Arg2428Ter
XM_005262155.3:c.7252A>T	XP_005262212.2:p.Arg2418Ter
XM_005262156.3:c.7204A>T	XP_005262213.2:p.Arg2402Ter
XM_005262157.3:c.7165A>T	XP_005262214.2:p.Arg2389Ter
XM_006724666.2:c.7252A>T	XP_006724729.1:p.Arg2418Ter
XM_006724667.2:c.7090A>T	XP_006724730.1:p.Arg2364Ter
XR_938400.1:n.8961A>T
NM_000489.5:c.7369A>T	NP_000480.3:p.Arg2457Ter
XM_005262153.5:c.7366A>T	XP_005262210.2:p.Arg2456Ter
XM_005262154.5:c.7282A>T	XP_005262211.2:p.Arg2428Ter
XM_005262155.4:c.7252A>T	XP_005262212.2:p.Arg2418Ter
XM_005262156.4:c.7204A>T	XP_005262213.2:p.Arg2402Ter
XM_005262157.5:c.7165A>T	XP_005262214.2:p.Arg2389Ter
XM_006724666.4:c.7252A>T	XP_006724729.1:p.Arg2418Ter
XM_006724667.3:c.7090A>T	XP_006724730.1:p.Arg2364Ter
XM_017029601.2:c.7279A>T	XP_016885090.1:p.Arg2427Ter
XM_017029602.1:c.7249A>T	XP_016885091.1:p.Arg2417Ter
XM_017029603.1:c.7201A>T	XP_016885092.1:p.Arg2401Ter
XM_017029604.2:c.7168A>T	XP_016885093.1:p.Arg2390Ter
XM_017029605.1:c.7165A>T	XP_016885094.1:p.Arg2389Ter
XM_017029606.2:c.7138A>T	XP_016885095.1:p.Arg2380Ter
XM_017029607.2:c.7135A>T	XP_016885096.1:p.Arg2379Ter
XM_017029608.2:c.7087A>T	XP_016885097.1:p.Arg2363Ter
XM_017029609.1:c.7051A>T	XP_016885098.1:p.Arg2351Ter
XM_017029610.1:c.7048A>T	XP_016885099.1:p.Arg2350Ter
XM_017029611.1:c.7003A>T	XP_016885100.1:p.Arg2335Ter
XR_001755700.2:n.7668A>T
NM_138270.4:c.7255A>T	NP_612114.2:p.Arg2419Ter
NM_000489.6:c.7369A>T MANE Select	NP_000480.3:p.Arg2457Ter
NM_138270.5:c.7255A>T	NP_612114.2:p.Arg2419Ter