Canonical Allele Identifier: CA413707089

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76776304C>G (hg19) ; chrX:g.77520826C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77520826C>G , CM000685.2:g.77520826C>G	GRCh38
NC_000023.10:g.76776304C>G , CM000685.1:g.76776304C>G	GRCh37
NC_000023.9:g.76662960C>G	NCBI36
NG_008838.2:g.270396G>C
NG_008838.3:g.270444G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000373344.11:c.7162G>C MANE Select	ENSP00000362441.4:p.Glu2388Gln
ENST00000675732.1:c.2260G>C	ENSP00000502598.1:p.Glu754Gln
ENST00000373344.9:c.7162G>C	ENSP00000362441.4:p.Glu2388Gln
ENST00000395603.7:c.7048G>C	ENSP00000378967.3:p.Glu2350Gln
ENST00000480283.5:c.*6790G>C	ENSP00000480196.1:n.*6790G>C
ENST00000623706.3:n.5482G>C
ENST00000624766.1:n.393G>C
NM_000489.4:c.7162G>C	NP_000480.3:p.Glu2388Gln
NM_138270.3:c.7048G>C	NP_612114.2:p.Glu2350Gln
XM_005262153.3:c.7159G>C	XP_005262210.2:p.Glu2387Gln
XM_005262154.3:c.7075G>C	XP_005262211.2:p.Glu2359Gln
XM_005262155.3:c.7045G>C	XP_005262212.2:p.Glu2349Gln
XM_005262156.3:c.6997G>C	XP_005262213.2:p.Glu2333Gln
XM_005262157.3:c.6958G>C	XP_005262214.2:p.Glu2320Gln
XM_006724666.2:c.7045G>C	XP_006724729.1:p.Glu2349Gln
XM_006724667.2:c.6883G>C	XP_006724730.1:p.Glu2295Gln
XR_938400.1:n.8754G>C
NM_000489.5:c.7162G>C	NP_000480.3:p.Glu2388Gln
XM_005262153.5:c.7159G>C	XP_005262210.2:p.Glu2387Gln
XM_005262154.5:c.7075G>C	XP_005262211.2:p.Glu2359Gln
XM_005262155.4:c.7045G>C	XP_005262212.2:p.Glu2349Gln
XM_005262156.4:c.6997G>C	XP_005262213.2:p.Glu2333Gln
XM_005262157.5:c.6958G>C	XP_005262214.2:p.Glu2320Gln
XM_006724666.4:c.7045G>C	XP_006724729.1:p.Glu2349Gln
XM_006724667.3:c.6883G>C	XP_006724730.1:p.Glu2295Gln
XM_017029601.2:c.7072G>C	XP_016885090.1:p.Glu2358Gln
XM_017029602.1:c.7042G>C	XP_016885091.1:p.Glu2348Gln
XM_017029603.1:c.6994G>C	XP_016885092.1:p.Glu2332Gln
XM_017029604.2:c.6961G>C	XP_016885093.1:p.Glu2321Gln
XM_017029605.1:c.6958G>C	XP_016885094.1:p.Glu2320Gln
XM_017029606.2:c.6931G>C	XP_016885095.1:p.Glu2311Gln
XM_017029607.2:c.6928G>C	XP_016885096.1:p.Glu2310Gln
XM_017029608.2:c.6880G>C	XP_016885097.1:p.Glu2294Gln
XM_017029609.1:c.6844G>C	XP_016885098.1:p.Glu2282Gln
XM_017029610.1:c.6841G>C	XP_016885099.1:p.Glu2281Gln
XM_017029611.1:c.6796G>C	XP_016885100.1:p.Glu2266Gln
XR_001755700.2:n.7461G>C
NM_138270.4:c.7048G>C	NP_612114.2:p.Glu2350Gln
NM_000489.6:c.7162G>C MANE Select	NP_000480.3:p.Glu2388Gln
NM_138270.5:c.7048G>C	NP_612114.2:p.Glu2350Gln