Canonical Allele Identifier: CA413708150

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76907691T>G (hg19) ; chrX:g.77652201T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652201T>G , CM000685.2:g.77652201T>G	GRCh38
NC_000023.10:g.76907691T>G , CM000685.1:g.76907691T>G	GRCh37
NC_000023.9:g.76794347T>G	NCBI36
NG_008838.2:g.139021A>C
NG_008838.3:g.139069A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4470A>C MANE Select	ENSP00000362441.4:p.Arg1490Ser
ENST00000373344.9:c.4470A>C	ENSP00000362441.4:p.Arg1490Ser
ENST00000395603.7:c.4356A>C	ENSP00000378967.3:p.Arg1452Ser
ENST00000480283.5:c.*4098A>C	ENSP00000480196.1:n.*4098A>C
ENST00000623242.3:c.76A>C
NM_000489.4:c.4470A>C	NP_000480.3:p.Arg1490Ser
NM_138270.3:c.4356A>C	NP_612114.2:p.Arg1452Ser
XM_005262153.3:c.4467A>C	XP_005262210.2:p.Arg1489Ser
XM_005262154.3:c.4383A>C	XP_005262211.2:p.Arg1461Ser
XM_005262155.3:c.4353A>C	XP_005262212.2:p.Arg1451Ser
XM_005262156.3:c.4305A>C	XP_005262213.2:p.Arg1435Ser
XM_005262157.3:c.4266A>C	XP_005262214.2:p.Arg1422Ser
XM_006724666.2:c.4353A>C	XP_006724729.1:p.Arg1451Ser
XM_006724667.2:c.4191A>C	XP_006724730.1:p.Arg1397Ser
XM_006724668.2:c.4470A>C	XP_006724731.1:p.Arg1490Ser
XR_938400.1:n.4738A>C
NM_000489.5:c.4470A>C	NP_000480.3:p.Arg1490Ser
XM_005262153.5:c.4467A>C	XP_005262210.2:p.Arg1489Ser
XM_005262154.5:c.4383A>C	XP_005262211.2:p.Arg1461Ser
XM_005262155.4:c.4353A>C	XP_005262212.2:p.Arg1451Ser
XM_005262156.4:c.4305A>C	XP_005262213.2:p.Arg1435Ser
XM_005262157.5:c.4266A>C	XP_005262214.2:p.Arg1422Ser
XM_006724666.4:c.4353A>C	XP_006724729.1:p.Arg1451Ser
XM_006724667.3:c.4191A>C	XP_006724730.1:p.Arg1397Ser
XM_006724668.3:c.4470A>C	XP_006724731.1:p.Arg1490Ser
XM_017029601.2:c.4380A>C	XP_016885090.1:p.Arg1460Ser
XM_017029602.1:c.4350A>C	XP_016885091.1:p.Arg1450Ser
XM_017029603.1:c.4302A>C	XP_016885092.1:p.Arg1434Ser
XM_017029604.2:c.4269A>C	XP_016885093.1:p.Arg1423Ser
XM_017029605.1:c.4266A>C	XP_016885094.1:p.Arg1422Ser
XM_017029606.2:c.4239A>C	XP_016885095.1:p.Arg1413Ser
XM_017029607.2:c.4236A>C	XP_016885096.1:p.Arg1412Ser
XM_017029608.2:c.4188A>C	XP_016885097.1:p.Arg1396Ser
XM_017029609.1:c.4152A>C	XP_016885098.1:p.Arg1384Ser
XM_017029610.1:c.4149A>C	XP_016885099.1:p.Arg1383Ser
XM_017029611.1:c.4104A>C	XP_016885100.1:p.Arg1368Ser
XR_001755700.2:n.4695A>C
NM_138270.4:c.4356A>C	NP_612114.2:p.Arg1452Ser
NM_000489.6:c.4470A>C MANE Select	NP_000480.3:p.Arg1490Ser
NM_138270.5:c.4356A>C	NP_612114.2:p.Arg1452Ser