Canonical Allele Identifier: CA413708285

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76907721A>C (hg19) ; chrX:g.77652231A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652231A>C , CM000685.2:g.77652231A>C	GRCh38
NC_000023.10:g.76907721A>C , CM000685.1:g.76907721A>C	GRCh37
NC_000023.9:g.76794377A>C	NCBI36
NG_008838.2:g.138991T>G
NG_008838.3:g.139039T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4440T>G MANE Select	ENSP00000362441.4:p.Ile1480Met
ENST00000373344.9:c.4440T>G	ENSP00000362441.4:p.Ile1480Met
ENST00000395603.7:c.4326T>G	ENSP00000378967.3:p.Ile1442Met
ENST00000480283.5:c.*4068T>G	ENSP00000480196.1:n.*4068T>G
ENST00000623242.3:c.46T>G
NM_000489.4:c.4440T>G	NP_000480.3:p.Ile1480Met
NM_138270.3:c.4326T>G	NP_612114.2:p.Ile1442Met
XM_005262153.3:c.4437T>G	XP_005262210.2:p.Ile1479Met
XM_005262154.3:c.4353T>G	XP_005262211.2:p.Ile1451Met
XM_005262155.3:c.4323T>G	XP_005262212.2:p.Ile1441Met
XM_005262156.3:c.4275T>G	XP_005262213.2:p.Ile1425Met
XM_005262157.3:c.4236T>G	XP_005262214.2:p.Ile1412Met
XM_006724666.2:c.4323T>G	XP_006724729.1:p.Ile1441Met
XM_006724667.2:c.4161T>G	XP_006724730.1:p.Ile1387Met
XM_006724668.2:c.4440T>G	XP_006724731.1:p.Ile1480Met
XR_938400.1:n.4708T>G
NM_000489.5:c.4440T>G	NP_000480.3:p.Ile1480Met
XM_005262153.5:c.4437T>G	XP_005262210.2:p.Ile1479Met
XM_005262154.5:c.4353T>G	XP_005262211.2:p.Ile1451Met
XM_005262155.4:c.4323T>G	XP_005262212.2:p.Ile1441Met
XM_005262156.4:c.4275T>G	XP_005262213.2:p.Ile1425Met
XM_005262157.5:c.4236T>G	XP_005262214.2:p.Ile1412Met
XM_006724666.4:c.4323T>G	XP_006724729.1:p.Ile1441Met
XM_006724667.3:c.4161T>G	XP_006724730.1:p.Ile1387Met
XM_006724668.3:c.4440T>G	XP_006724731.1:p.Ile1480Met
XM_017029601.2:c.4350T>G	XP_016885090.1:p.Ile1450Met
XM_017029602.1:c.4320T>G	XP_016885091.1:p.Ile1440Met
XM_017029603.1:c.4272T>G	XP_016885092.1:p.Ile1424Met
XM_017029604.2:c.4239T>G	XP_016885093.1:p.Ile1413Met
XM_017029605.1:c.4236T>G	XP_016885094.1:p.Ile1412Met
XM_017029606.2:c.4209T>G	XP_016885095.1:p.Ile1403Met
XM_017029607.2:c.4206T>G	XP_016885096.1:p.Ile1402Met
XM_017029608.2:c.4158T>G	XP_016885097.1:p.Ile1386Met
XM_017029609.1:c.4122T>G	XP_016885098.1:p.Ile1374Met
XM_017029610.1:c.4119T>G	XP_016885099.1:p.Ile1373Met
XM_017029611.1:c.4074T>G	XP_016885100.1:p.Ile1358Met
XR_001755700.2:n.4665T>G
NM_138270.4:c.4326T>G	NP_612114.2:p.Ile1442Met
NM_000489.6:c.4440T>G MANE Select	NP_000480.3:p.Ile1480Met
NM_138270.5:c.4326T>G	NP_612114.2:p.Ile1442Met