Canonical Allele Identifier: CA413704385

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763978A>T (hg19) ; chrX:g.77508500A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508500A>T , CM000685.2:g.77508500A>T	GRCh38
NC_000023.10:g.76763978A>T , CM000685.1:g.76763978A>T	GRCh37
NC_000023.9:g.76650634A>T	NCBI36
NG_008838.2:g.282722T>A
NG_008838.3:g.282770T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7330T>A MANE Select	ENSP00000362441.4:p.Leu2444Met
ENST00000675732.1:c.2428T>A	ENSP00000502598.1:p.Leu810Met
ENST00000373344.9:c.7330T>A	ENSP00000362441.4:p.Leu2444Met
ENST00000395603.7:c.7216T>A	ENSP00000378967.3:p.Leu2406Met
ENST00000480283.5:c.*6958T>A	ENSP00000480196.1:n.*6958T>A
ENST00000623706.3:n.5650T>A
ENST00000624766.1:n.561T>A
NM_000489.4:c.7330T>A	NP_000480.3:p.Leu2444Met
NM_138270.3:c.7216T>A	NP_612114.2:p.Leu2406Met
XM_005262153.3:c.7327T>A	XP_005262210.2:p.Leu2443Met
XM_005262154.3:c.7243T>A	XP_005262211.2:p.Leu2415Met
XM_005262155.3:c.7213T>A	XP_005262212.2:p.Leu2405Met
XM_005262156.3:c.7165T>A	XP_005262213.2:p.Leu2389Met
XM_005262157.3:c.7126T>A	XP_005262214.2:p.Leu2376Met
XM_006724666.2:c.7213T>A	XP_006724729.1:p.Leu2405Met
XM_006724667.2:c.7051T>A	XP_006724730.1:p.Leu2351Met
XR_938400.1:n.8922T>A
NM_000489.5:c.7330T>A	NP_000480.3:p.Leu2444Met
XM_005262153.5:c.7327T>A	XP_005262210.2:p.Leu2443Met
XM_005262154.5:c.7243T>A	XP_005262211.2:p.Leu2415Met
XM_005262155.4:c.7213T>A	XP_005262212.2:p.Leu2405Met
XM_005262156.4:c.7165T>A	XP_005262213.2:p.Leu2389Met
XM_005262157.5:c.7126T>A	XP_005262214.2:p.Leu2376Met
XM_006724666.4:c.7213T>A	XP_006724729.1:p.Leu2405Met
XM_006724667.3:c.7051T>A	XP_006724730.1:p.Leu2351Met
XM_017029601.2:c.7240T>A	XP_016885090.1:p.Leu2414Met
XM_017029602.1:c.7210T>A	XP_016885091.1:p.Leu2404Met
XM_017029603.1:c.7162T>A	XP_016885092.1:p.Leu2388Met
XM_017029604.2:c.7129T>A	XP_016885093.1:p.Leu2377Met
XM_017029605.1:c.7126T>A	XP_016885094.1:p.Leu2376Met
XM_017029606.2:c.7099T>A	XP_016885095.1:p.Leu2367Met
XM_017029607.2:c.7096T>A	XP_016885096.1:p.Leu2366Met
XM_017029608.2:c.7048T>A	XP_016885097.1:p.Leu2350Met
XM_017029609.1:c.7012T>A	XP_016885098.1:p.Leu2338Met
XM_017029610.1:c.7009T>A	XP_016885099.1:p.Leu2337Met
XM_017029611.1:c.6964T>A	XP_016885100.1:p.Leu2322Met
XR_001755700.2:n.7629T>A
NM_138270.4:c.7216T>A	NP_612114.2:p.Leu2406Met
NM_000489.6:c.7330T>A MANE Select	NP_000480.3:p.Leu2444Met
NM_138270.5:c.7216T>A	NP_612114.2:p.Leu2406Met