Canonical Allele Identifier: CA413708074

Gene: ATRX

Linked Data

• dbSNP Id: rs2069279265
• MyVariant Identifiers: chrX:g.76907679T>G (hg19) ; chrX:g.77652189T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652189T>G , CM000685.2:g.77652189T>G	GRCh38
NC_000023.10:g.76907679T>G , CM000685.1:g.76907679T>G	GRCh37
NC_000023.9:g.76794335T>G	NCBI36
NG_008838.2:g.139033A>C
NG_008838.3:g.139081A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4482A>C MANE Select	ENSP00000362441.4:p.Gln1494His
ENST00000373344.9:c.4482A>C	ENSP00000362441.4:p.Gln1494His
ENST00000395603.7:c.4368A>C	ENSP00000378967.3:p.Gln1456His
ENST00000480283.5:c.*4110A>C	ENSP00000480196.1:n.*4110A>C
ENST00000623242.3:c.88A>C
NM_000489.4:c.4482A>C	NP_000480.3:p.Gln1494His
NM_138270.3:c.4368A>C	NP_612114.2:p.Gln1456His
XM_005262153.3:c.4479A>C	XP_005262210.2:p.Gln1493His
XM_005262154.3:c.4395A>C	XP_005262211.2:p.Gln1465His
XM_005262155.3:c.4365A>C	XP_005262212.2:p.Gln1455His
XM_005262156.3:c.4317A>C	XP_005262213.2:p.Gln1439His
XM_005262157.3:c.4278A>C	XP_005262214.2:p.Gln1426His
XM_006724666.2:c.4365A>C	XP_006724729.1:p.Gln1455His
XM_006724667.2:c.4203A>C	XP_006724730.1:p.Gln1401His
XM_006724668.2:c.4482A>C	XP_006724731.1:p.Gln1494His
XR_938400.1:n.4750A>C
NM_000489.5:c.4482A>C	NP_000480.3:p.Gln1494His
XM_005262153.5:c.4479A>C	XP_005262210.2:p.Gln1493His
XM_005262154.5:c.4395A>C	XP_005262211.2:p.Gln1465His
XM_005262155.4:c.4365A>C	XP_005262212.2:p.Gln1455His
XM_005262156.4:c.4317A>C	XP_005262213.2:p.Gln1439His
XM_005262157.5:c.4278A>C	XP_005262214.2:p.Gln1426His
XM_006724666.4:c.4365A>C	XP_006724729.1:p.Gln1455His
XM_006724667.3:c.4203A>C	XP_006724730.1:p.Gln1401His
XM_006724668.3:c.4482A>C	XP_006724731.1:p.Gln1494His
XM_017029601.2:c.4392A>C	XP_016885090.1:p.Gln1464His
XM_017029602.1:c.4362A>C	XP_016885091.1:p.Gln1454His
XM_017029603.1:c.4314A>C	XP_016885092.1:p.Gln1438His
XM_017029604.2:c.4281A>C	XP_016885093.1:p.Gln1427His
XM_017029605.1:c.4278A>C	XP_016885094.1:p.Gln1426His
XM_017029606.2:c.4251A>C	XP_016885095.1:p.Gln1417His
XM_017029607.2:c.4248A>C	XP_016885096.1:p.Gln1416His
XM_017029608.2:c.4200A>C	XP_016885097.1:p.Gln1400His
XM_017029609.1:c.4164A>C	XP_016885098.1:p.Gln1388His
XM_017029610.1:c.4161A>C	XP_016885099.1:p.Gln1387His
XM_017029611.1:c.4116A>C	XP_016885100.1:p.Gln1372His
XR_001755700.2:n.4707A>C
NM_138270.4:c.4368A>C	NP_612114.2:p.Gln1456His
NM_000489.6:c.4482A>C MANE Select	NP_000480.3:p.Gln1494His
NM_138270.5:c.4368A>C	NP_612114.2:p.Gln1456His