Canonical Allele Identifier: CA413701071

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76829764G>C (hg19) ; chrX:g.77574299G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574299G>C , CM000685.2:g.77574299G>C	GRCh38
NC_000023.10:g.76829764G>C , CM000685.1:g.76829764G>C	GRCh37
NC_000023.9:g.76716420G>C	NCBI36
NG_008838.2:g.216923C>G
NG_008838.3:g.216971C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6277C>G MANE Select	ENSP00000362441.4:p.Gln2093Glu
ENST00000675732.1:c.1375C>G	ENSP00000502598.1:p.Gln459Glu
ENST00000373344.9:c.6277C>G	ENSP00000362441.4:p.Gln2093Glu
ENST00000395603.7:c.6163C>G	ENSP00000378967.3:p.Gln2055Glu
ENST00000480283.5:c.*5905C>G	ENSP00000480196.1:n.*5905C>G
ENST00000623316.1:c.761C>G
ENST00000623706.3:n.3347C>G
NM_000489.4:c.6277C>G	NP_000480.3:p.Gln2093Glu
NM_138270.3:c.6163C>G	NP_612114.2:p.Gln2055Glu
XM_005262153.3:c.6274C>G	XP_005262210.2:p.Gln2092Glu
XM_005262154.3:c.6190C>G	XP_005262211.2:p.Gln2064Glu
XM_005262155.3:c.6160C>G	XP_005262212.2:p.Gln2054Glu
XM_005262156.3:c.6112C>G	XP_005262213.2:p.Gln2038Glu
XM_005262157.3:c.6073C>G	XP_005262214.2:p.Gln2025Glu
XM_006724666.2:c.6160C>G	XP_006724729.1:p.Gln2054Glu
XM_006724667.2:c.5998C>G	XP_006724730.1:p.Gln2000Glu
XR_938400.1:n.6619C>G
NM_000489.5:c.6277C>G	NP_000480.3:p.Gln2093Glu
XM_005262153.5:c.6274C>G	XP_005262210.2:p.Gln2092Glu
XM_005262154.5:c.6190C>G	XP_005262211.2:p.Gln2064Glu
XM_005262155.4:c.6160C>G	XP_005262212.2:p.Gln2054Glu
XM_005262156.4:c.6112C>G	XP_005262213.2:p.Gln2038Glu
XM_005262157.5:c.6073C>G	XP_005262214.2:p.Gln2025Glu
XM_006724666.4:c.6160C>G	XP_006724729.1:p.Gln2054Glu
XM_006724667.3:c.5998C>G	XP_006724730.1:p.Gln2000Glu
XM_017029601.2:c.6187C>G	XP_016885090.1:p.Gln2063Glu
XM_017029602.1:c.6157C>G	XP_016885091.1:p.Gln2053Glu
XM_017029603.1:c.6109C>G	XP_016885092.1:p.Gln2037Glu
XM_017029604.2:c.6076C>G	XP_016885093.1:p.Gln2026Glu
XM_017029605.1:c.6073C>G	XP_016885094.1:p.Gln2025Glu
XM_017029606.2:c.6046C>G	XP_016885095.1:p.Gln2016Glu
XM_017029607.2:c.6043C>G	XP_016885096.1:p.Gln2015Glu
XM_017029608.2:c.5995C>G	XP_016885097.1:p.Gln1999Glu
XM_017029609.1:c.5959C>G	XP_016885098.1:p.Gln1987Glu
XM_017029610.1:c.5956C>G	XP_016885099.1:p.Gln1986Glu
XM_017029611.1:c.5911C>G	XP_016885100.1:p.Gln1971Glu
XR_001755700.2:n.6576C>G
NM_138270.4:c.6163C>G	NP_612114.2:p.Gln2055Glu
NM_000489.6:c.6277C>G MANE Select	NP_000480.3:p.Gln2093Glu
NM_138270.5:c.6163C>G	NP_612114.2:p.Gln2055Glu