Canonical Allele Identifier: CA413704372

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763977A>T (hg19) ; chrX:g.77508499A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508499A>T , CM000685.2:g.77508499A>T	GRCh38
NC_000023.10:g.76763977A>T , CM000685.1:g.76763977A>T	GRCh37
NC_000023.9:g.76650633A>T	NCBI36
NG_008838.2:g.282723T>A
NG_008838.3:g.282771T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7331T>A MANE Select	ENSP00000362441.4:p.Leu2444Ter
ENST00000675732.1:c.2429T>A	ENSP00000502598.1:p.Leu810Ter
ENST00000373344.9:c.7331T>A	ENSP00000362441.4:p.Leu2444Ter
ENST00000395603.7:c.7217T>A	ENSP00000378967.3:p.Leu2406Ter
ENST00000480283.5:c.*6959T>A	ENSP00000480196.1:n.*6959T>A
ENST00000623706.3:n.5651T>A
ENST00000624766.1:n.562T>A
NM_000489.4:c.7331T>A	NP_000480.3:p.Leu2444Ter
NM_138270.3:c.7217T>A	NP_612114.2:p.Leu2406Ter
XM_005262153.3:c.7328T>A	XP_005262210.2:p.Leu2443Ter
XM_005262154.3:c.7244T>A	XP_005262211.2:p.Leu2415Ter
XM_005262155.3:c.7214T>A	XP_005262212.2:p.Leu2405Ter
XM_005262156.3:c.7166T>A	XP_005262213.2:p.Leu2389Ter
XM_005262157.3:c.7127T>A	XP_005262214.2:p.Leu2376Ter
XM_006724666.2:c.7214T>A	XP_006724729.1:p.Leu2405Ter
XM_006724667.2:c.7052T>A	XP_006724730.1:p.Leu2351Ter
XR_938400.1:n.8923T>A
NM_000489.5:c.7331T>A	NP_000480.3:p.Leu2444Ter
XM_005262153.5:c.7328T>A	XP_005262210.2:p.Leu2443Ter
XM_005262154.5:c.7244T>A	XP_005262211.2:p.Leu2415Ter
XM_005262155.4:c.7214T>A	XP_005262212.2:p.Leu2405Ter
XM_005262156.4:c.7166T>A	XP_005262213.2:p.Leu2389Ter
XM_005262157.5:c.7127T>A	XP_005262214.2:p.Leu2376Ter
XM_006724666.4:c.7214T>A	XP_006724729.1:p.Leu2405Ter
XM_006724667.3:c.7052T>A	XP_006724730.1:p.Leu2351Ter
XM_017029601.2:c.7241T>A	XP_016885090.1:p.Leu2414Ter
XM_017029602.1:c.7211T>A	XP_016885091.1:p.Leu2404Ter
XM_017029603.1:c.7163T>A	XP_016885092.1:p.Leu2388Ter
XM_017029604.2:c.7130T>A	XP_016885093.1:p.Leu2377Ter
XM_017029605.1:c.7127T>A	XP_016885094.1:p.Leu2376Ter
XM_017029606.2:c.7100T>A	XP_016885095.1:p.Leu2367Ter
XM_017029607.2:c.7097T>A	XP_016885096.1:p.Leu2366Ter
XM_017029608.2:c.7049T>A	XP_016885097.1:p.Leu2350Ter
XM_017029609.1:c.7013T>A	XP_016885098.1:p.Leu2338Ter
XM_017029610.1:c.7010T>A	XP_016885099.1:p.Leu2337Ter
XM_017029611.1:c.6965T>A	XP_016885100.1:p.Leu2322Ter
XR_001755700.2:n.7630T>A
NM_138270.4:c.7217T>A	NP_612114.2:p.Leu2406Ter
NM_000489.6:c.7331T>A MANE Select	NP_000480.3:p.Leu2444Ter
NM_138270.5:c.7217T>A	NP_612114.2:p.Leu2406Ter