Canonical Allele Identifier: CA517471490

Gene: ATRX

Linked Data

• dbSNP Id: rs2069281989
• MyVariant Identifiers: chrX:g.76907751G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652261G>C , CM000685.2:g.77652261G>C	GRCh38
NC_000023.10:g.76907751G>C , CM000685.1:g.76907751G>C	GRCh37
NC_000023.9:g.76794407G>C	NCBI36
NG_008838.2:g.138961C>G
NG_008838.3:g.139009C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4410C>G MANE Select	ENSP00000362441.4:p.Ser1470=
ENST00000373344.9:c.4410C>G	ENSP00000362441.4:p.Ser1470=
ENST00000395603.7:c.4296C>G	ENSP00000378967.3:p.Ser1432=
ENST00000480283.5:c.*4038C>G	ENSP00000480196.1:n.*4038C>G
ENST00000623242.3:c.16C>G
NM_000489.4:c.4410C>G	NP_000480.3:p.Ser1470=
NM_138270.3:c.4296C>G	NP_612114.2:p.Ser1432=
XM_005262153.3:c.4407C>G	XP_005262210.2:p.Ser1469=
XM_005262154.3:c.4323C>G	XP_005262211.2:p.Ser1441=
XM_005262155.3:c.4293C>G	XP_005262212.2:p.Ser1431=
XM_005262156.3:c.4245C>G	XP_005262213.2:p.Ser1415=
XM_005262157.3:c.4206C>G	XP_005262214.2:p.Ser1402=
XM_006724666.2:c.4293C>G	XP_006724729.1:p.Ser1431=
XM_006724667.2:c.4131C>G	XP_006724730.1:p.Ser1377=
XM_006724668.2:c.4410C>G	XP_006724731.1:p.Ser1470=
XR_938400.1:n.4678C>G
NM_000489.5:c.4410C>G	NP_000480.3:p.Ser1470=
XM_005262153.5:c.4407C>G	XP_005262210.2:p.Ser1469=
XM_005262154.5:c.4323C>G	XP_005262211.2:p.Ser1441=
XM_005262155.4:c.4293C>G	XP_005262212.2:p.Ser1431=
XM_005262156.4:c.4245C>G	XP_005262213.2:p.Ser1415=
XM_005262157.5:c.4206C>G	XP_005262214.2:p.Ser1402=
XM_006724666.4:c.4293C>G	XP_006724729.1:p.Ser1431=
XM_006724667.3:c.4131C>G	XP_006724730.1:p.Ser1377=
XM_006724668.3:c.4410C>G	XP_006724731.1:p.Ser1470=
XM_017029601.2:c.4320C>G	XP_016885090.1:p.Ser1440=
XM_017029602.1:c.4290C>G	XP_016885091.1:p.Ser1430=
XM_017029603.1:c.4242C>G	XP_016885092.1:p.Ser1414=
XM_017029604.2:c.4209C>G	XP_016885093.1:p.Ser1403=
XM_017029605.1:c.4206C>G	XP_016885094.1:p.Ser1402=
XM_017029606.2:c.4179C>G	XP_016885095.1:p.Ser1393=
XM_017029607.2:c.4176C>G	XP_016885096.1:p.Ser1392=
XM_017029608.2:c.4128C>G	XP_016885097.1:p.Ser1376=
XM_017029609.1:c.4092C>G	XP_016885098.1:p.Ser1364=
XM_017029610.1:c.4089C>G	XP_016885099.1:p.Ser1363=
XM_017029611.1:c.4044C>G	XP_016885100.1:p.Ser1348=
XR_001755700.2:n.4635C>G
NM_138270.4:c.4296C>G	NP_612114.2:p.Ser1432=
NM_000489.6:c.4410C>G MANE Select	NP_000480.3:p.Ser1470=
NM_138270.5:c.4296C>G	NP_612114.2:p.Ser1432=