Canonical Allele Identifier: CA517375795

Gene: ATRX

Linked Data

• COSMIC: COSM5954776 ; COSM5954777
• MyVariant Identifiers: chrX:g.76889189A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77633701A>G , CM000685.2:g.77633701A>G	GRCh38
NC_000023.10:g.76889189A>G , CM000685.1:g.76889189A>G	GRCh37
NC_000023.9:g.76775845A>G	NCBI36
NG_008838.2:g.157521T>C
NG_008838.3:g.157569T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4821T>C MANE Select	ENSP00000362441.4:p.Phe1607=
ENST00000675732.1:c.-82T>C	ENSP00000502598.1:n.-82T>C
ENST00000675908.1:n.556T>C
ENST00000373344.9:c.4821T>C	ENSP00000362441.4:p.Phe1607=
ENST00000395603.7:c.4707T>C	ENSP00000378967.3:p.Phe1569=
ENST00000480283.5:c.*4449T>C	ENSP00000480196.1:n.*4449T>C
ENST00000623242.3:c.558T>C
ENST00000624403.1:n.165T>C
NM_000489.4:c.4821T>C	NP_000480.3:p.Phe1607=
NM_138270.3:c.4707T>C	NP_612114.2:p.Phe1569=
XM_005262153.3:c.4818T>C	XP_005262210.2:p.Phe1606=
XM_005262154.3:c.4734T>C	XP_005262211.2:p.Phe1578=
XM_005262155.3:c.4704T>C	XP_005262212.2:p.Phe1568=
XM_005262156.3:c.4656T>C	XP_005262213.2:p.Phe1552=
XM_005262157.3:c.4617T>C	XP_005262214.2:p.Phe1539=
XM_006724666.2:c.4704T>C	XP_006724729.1:p.Phe1568=
XM_006724667.2:c.4542T>C	XP_006724730.1:p.Phe1514=
XM_006724668.2:c.4821T>C	XP_006724731.1:p.Phe1607=
XR_938400.1:n.5089T>C
NM_000489.5:c.4821T>C	NP_000480.3:p.Phe1607=
XM_005262153.5:c.4818T>C	XP_005262210.2:p.Phe1606=
XM_005262154.5:c.4734T>C	XP_005262211.2:p.Phe1578=
XM_005262155.4:c.4704T>C	XP_005262212.2:p.Phe1568=
XM_005262156.4:c.4656T>C	XP_005262213.2:p.Phe1552=
XM_005262157.5:c.4617T>C	XP_005262214.2:p.Phe1539=
XM_006724666.4:c.4704T>C	XP_006724729.1:p.Phe1568=
XM_006724667.3:c.4542T>C	XP_006724730.1:p.Phe1514=
XM_006724668.3:c.4821T>C	XP_006724731.1:p.Phe1607=
XM_017029601.2:c.4731T>C	XP_016885090.1:p.Phe1577=
XM_017029602.1:c.4701T>C	XP_016885091.1:p.Phe1567=
XM_017029603.1:c.4653T>C	XP_016885092.1:p.Phe1551=
XM_017029604.2:c.4620T>C	XP_016885093.1:p.Phe1540=
XM_017029605.1:c.4617T>C	XP_016885094.1:p.Phe1539=
XM_017029606.2:c.4590T>C	XP_016885095.1:p.Phe1530=
XM_017029607.2:c.4587T>C	XP_016885096.1:p.Phe1529=
XM_017029608.2:c.4539T>C	XP_016885097.1:p.Phe1513=
XM_017029609.1:c.4503T>C	XP_016885098.1:p.Phe1501=
XM_017029610.1:c.4500T>C	XP_016885099.1:p.Phe1500=
XM_017029611.1:c.4455T>C	XP_016885100.1:p.Phe1485=
XR_001755700.2:n.5046T>C
NM_138270.4:c.4707T>C	NP_612114.2:p.Phe1569=
NM_000489.6:c.4821T>C MANE Select	NP_000480.3:p.Phe1607=
NM_138270.5:c.4707T>C	NP_612114.2:p.Phe1569=