Canonical Allele Identifier: CA413707863

Gene: ATRX

Linked Data

• dbSNP Id: rs181244850
• MyVariant Identifiers: chrX:g.76907644C>G (hg19) ; chrX:g.77652154C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652154C>G , CM000685.2:g.77652154C>G	GRCh38
NC_000023.10:g.76907644C>G , CM000685.1:g.76907644C>G	GRCh37
NC_000023.9:g.76794300C>G	NCBI36
NG_008838.2:g.139068G>C
NG_008838.3:g.139116G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4517G>C MANE Select	ENSP00000362441.4:p.Arg1506Pro
ENST00000373344.9:c.4517G>C	ENSP00000362441.4:p.Arg1506Pro
ENST00000395603.7:c.4403G>C	ENSP00000378967.3:p.Arg1468Pro
ENST00000480283.5:c.*4145G>C	ENSP00000480196.1:n.*4145G>C
ENST00000623242.3:c.123G>C
NM_000489.4:c.4517G>C	NP_000480.3:p.Arg1506Pro
NM_138270.3:c.4403G>C	NP_612114.2:p.Arg1468Pro
XM_005262153.3:c.4514G>C	XP_005262210.2:p.Arg1505Pro
XM_005262154.3:c.4430G>C	XP_005262211.2:p.Arg1477Pro
XM_005262155.3:c.4400G>C	XP_005262212.2:p.Arg1467Pro
XM_005262156.3:c.4352G>C	XP_005262213.2:p.Arg1451Pro
XM_005262157.3:c.4313G>C	XP_005262214.2:p.Arg1438Pro
XM_006724666.2:c.4400G>C	XP_006724729.1:p.Arg1467Pro
XM_006724667.2:c.4238G>C	XP_006724730.1:p.Arg1413Pro
XM_006724668.2:c.4517G>C	XP_006724731.1:p.Arg1506Pro
XR_938400.1:n.4785G>C
NM_000489.5:c.4517G>C	NP_000480.3:p.Arg1506Pro
XM_005262153.5:c.4514G>C	XP_005262210.2:p.Arg1505Pro
XM_005262154.5:c.4430G>C	XP_005262211.2:p.Arg1477Pro
XM_005262155.4:c.4400G>C	XP_005262212.2:p.Arg1467Pro
XM_005262156.4:c.4352G>C	XP_005262213.2:p.Arg1451Pro
XM_005262157.5:c.4313G>C	XP_005262214.2:p.Arg1438Pro
XM_006724666.4:c.4400G>C	XP_006724729.1:p.Arg1467Pro
XM_006724667.3:c.4238G>C	XP_006724730.1:p.Arg1413Pro
XM_006724668.3:c.4517G>C	XP_006724731.1:p.Arg1506Pro
XM_017029601.2:c.4427G>C	XP_016885090.1:p.Arg1476Pro
XM_017029602.1:c.4397G>C	XP_016885091.1:p.Arg1466Pro
XM_017029603.1:c.4349G>C	XP_016885092.1:p.Arg1450Pro
XM_017029604.2:c.4316G>C	XP_016885093.1:p.Arg1439Pro
XM_017029605.1:c.4313G>C	XP_016885094.1:p.Arg1438Pro
XM_017029606.2:c.4286G>C	XP_016885095.1:p.Arg1429Pro
XM_017029607.2:c.4283G>C	XP_016885096.1:p.Arg1428Pro
XM_017029608.2:c.4235G>C	XP_016885097.1:p.Arg1412Pro
XM_017029609.1:c.4199G>C	XP_016885098.1:p.Arg1400Pro
XM_017029610.1:c.4196G>C	XP_016885099.1:p.Arg1399Pro
XM_017029611.1:c.4151G>C	XP_016885100.1:p.Arg1384Pro
XR_001755700.2:n.4742G>C
NM_138270.4:c.4403G>C	NP_612114.2:p.Arg1468Pro
NM_000489.6:c.4517G>C MANE Select	NP_000480.3:p.Arg1506Pro
NM_138270.5:c.4403G>C	NP_612114.2:p.Arg1468Pro