Canonical Allele Identifier: CA413707377

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76776370C>G (hg19) ; chrX:g.77520892C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77520892C>G , CM000685.2:g.77520892C>G	GRCh38
NC_000023.10:g.76776370C>G , CM000685.1:g.76776370C>G	GRCh37
NC_000023.9:g.76663026C>G	NCBI36
NG_008838.2:g.270330G>C
NG_008838.3:g.270378G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7096G>C MANE Select	ENSP00000362441.4:p.Glu2366Gln
ENST00000675732.1:c.2194G>C	ENSP00000502598.1:p.Glu732Gln
ENST00000373344.9:c.7096G>C	ENSP00000362441.4:p.Glu2366Gln
ENST00000395603.7:c.6982G>C	ENSP00000378967.3:p.Glu2328Gln
ENST00000480283.5:c.*6724G>C	ENSP00000480196.1:n.*6724G>C
ENST00000623706.3:n.5416G>C
ENST00000624766.1:n.327G>C
NM_000489.4:c.7096G>C	NP_000480.3:p.Glu2366Gln
NM_138270.3:c.6982G>C	NP_612114.2:p.Glu2328Gln
XM_005262153.3:c.7093G>C	XP_005262210.2:p.Glu2365Gln
XM_005262154.3:c.7009G>C	XP_005262211.2:p.Glu2337Gln
XM_005262155.3:c.6979G>C	XP_005262212.2:p.Glu2327Gln
XM_005262156.3:c.6931G>C	XP_005262213.2:p.Glu2311Gln
XM_005262157.3:c.6892G>C	XP_005262214.2:p.Glu2298Gln
XM_006724666.2:c.6979G>C	XP_006724729.1:p.Glu2327Gln
XM_006724667.2:c.6817G>C	XP_006724730.1:p.Glu2273Gln
XR_938400.1:n.8688G>C
NM_000489.5:c.7096G>C	NP_000480.3:p.Glu2366Gln
XM_005262153.5:c.7093G>C	XP_005262210.2:p.Glu2365Gln
XM_005262154.5:c.7009G>C	XP_005262211.2:p.Glu2337Gln
XM_005262155.4:c.6979G>C	XP_005262212.2:p.Glu2327Gln
XM_005262156.4:c.6931G>C	XP_005262213.2:p.Glu2311Gln
XM_005262157.5:c.6892G>C	XP_005262214.2:p.Glu2298Gln
XM_006724666.4:c.6979G>C	XP_006724729.1:p.Glu2327Gln
XM_006724667.3:c.6817G>C	XP_006724730.1:p.Glu2273Gln
XM_017029601.2:c.7006G>C	XP_016885090.1:p.Glu2336Gln
XM_017029602.1:c.6976G>C	XP_016885091.1:p.Glu2326Gln
XM_017029603.1:c.6928G>C	XP_016885092.1:p.Glu2310Gln
XM_017029604.2:c.6895G>C	XP_016885093.1:p.Glu2299Gln
XM_017029605.1:c.6892G>C	XP_016885094.1:p.Glu2298Gln
XM_017029606.2:c.6865G>C	XP_016885095.1:p.Glu2289Gln
XM_017029607.2:c.6862G>C	XP_016885096.1:p.Glu2288Gln
XM_017029608.2:c.6814G>C	XP_016885097.1:p.Glu2272Gln
XM_017029609.1:c.6778G>C	XP_016885098.1:p.Glu2260Gln
XM_017029610.1:c.6775G>C	XP_016885099.1:p.Glu2259Gln
XM_017029611.1:c.6730G>C	XP_016885100.1:p.Glu2244Gln
XR_001755700.2:n.7395G>C
NM_138270.4:c.6982G>C	NP_612114.2:p.Glu2328Gln
NM_000489.6:c.7096G>C MANE Select	NP_000480.3:p.Glu2366Gln
NM_138270.5:c.6982G>C	NP_612114.2:p.Glu2328Gln