Canonical Allele Identifier: CA413708166

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76907695A>C (hg19) ; chrX:g.77652205A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652205A>C , CM000685.2:g.77652205A>C	GRCh38
NC_000023.10:g.76907695A>C , CM000685.1:g.76907695A>C	GRCh37
NC_000023.9:g.76794351A>C	NCBI36
NG_008838.2:g.139017T>G
NG_008838.3:g.139065T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4466T>G MANE Select	ENSP00000362441.4:p.Leu1489Arg
ENST00000373344.9:c.4466T>G	ENSP00000362441.4:p.Leu1489Arg
ENST00000395603.7:c.4352T>G	ENSP00000378967.3:p.Leu1451Arg
ENST00000480283.5:c.*4094T>G	ENSP00000480196.1:n.*4094T>G
ENST00000623242.3:c.72T>G
NM_000489.4:c.4466T>G	NP_000480.3:p.Leu1489Arg
NM_138270.3:c.4352T>G	NP_612114.2:p.Leu1451Arg
XM_005262153.3:c.4463T>G	XP_005262210.2:p.Leu1488Arg
XM_005262154.3:c.4379T>G	XP_005262211.2:p.Leu1460Arg
XM_005262155.3:c.4349T>G	XP_005262212.2:p.Leu1450Arg
XM_005262156.3:c.4301T>G	XP_005262213.2:p.Leu1434Arg
XM_005262157.3:c.4262T>G	XP_005262214.2:p.Leu1421Arg
XM_006724666.2:c.4349T>G	XP_006724729.1:p.Leu1450Arg
XM_006724667.2:c.4187T>G	XP_006724730.1:p.Leu1396Arg
XM_006724668.2:c.4466T>G	XP_006724731.1:p.Leu1489Arg
XR_938400.1:n.4734T>G
NM_000489.5:c.4466T>G	NP_000480.3:p.Leu1489Arg
XM_005262153.5:c.4463T>G	XP_005262210.2:p.Leu1488Arg
XM_005262154.5:c.4379T>G	XP_005262211.2:p.Leu1460Arg
XM_005262155.4:c.4349T>G	XP_005262212.2:p.Leu1450Arg
XM_005262156.4:c.4301T>G	XP_005262213.2:p.Leu1434Arg
XM_005262157.5:c.4262T>G	XP_005262214.2:p.Leu1421Arg
XM_006724666.4:c.4349T>G	XP_006724729.1:p.Leu1450Arg
XM_006724667.3:c.4187T>G	XP_006724730.1:p.Leu1396Arg
XM_006724668.3:c.4466T>G	XP_006724731.1:p.Leu1489Arg
XM_017029601.2:c.4376T>G	XP_016885090.1:p.Leu1459Arg
XM_017029602.1:c.4346T>G	XP_016885091.1:p.Leu1449Arg
XM_017029603.1:c.4298T>G	XP_016885092.1:p.Leu1433Arg
XM_017029604.2:c.4265T>G	XP_016885093.1:p.Leu1422Arg
XM_017029605.1:c.4262T>G	XP_016885094.1:p.Leu1421Arg
XM_017029606.2:c.4235T>G	XP_016885095.1:p.Leu1412Arg
XM_017029607.2:c.4232T>G	XP_016885096.1:p.Leu1411Arg
XM_017029608.2:c.4184T>G	XP_016885097.1:p.Leu1395Arg
XM_017029609.1:c.4148T>G	XP_016885098.1:p.Leu1383Arg
XM_017029610.1:c.4145T>G	XP_016885099.1:p.Leu1382Arg
XM_017029611.1:c.4100T>G	XP_016885100.1:p.Leu1367Arg
XR_001755700.2:n.4691T>G
NM_138270.4:c.4352T>G	NP_612114.2:p.Leu1451Arg
NM_000489.6:c.4466T>G MANE Select	NP_000480.3:p.Leu1489Arg
NM_138270.5:c.4352T>G	NP_612114.2:p.Leu1451Arg