Canonical Allele Identifier: CA413707130

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76776313T>G (hg19) ; chrX:g.77520835T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77520835T>G , CM000685.2:g.77520835T>G	GRCh38
NC_000023.10:g.76776313T>G , CM000685.1:g.76776313T>G	GRCh37
NC_000023.9:g.76662969T>G	NCBI36
NG_008838.2:g.270387A>C
NG_008838.3:g.270435A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000373344.11:c.7153A>C MANE Select	ENSP00000362441.4:p.Lys2385Gln
ENST00000675732.1:c.2251A>C	ENSP00000502598.1:p.Lys751Gln
ENST00000373344.9:c.7153A>C	ENSP00000362441.4:p.Lys2385Gln
ENST00000395603.7:c.7039A>C	ENSP00000378967.3:p.Lys2347Gln
ENST00000480283.5:c.*6781A>C	ENSP00000480196.1:n.*6781A>C
ENST00000623706.3:n.5473A>C
ENST00000624766.1:n.384A>C
NM_000489.4:c.7153A>C	NP_000480.3:p.Lys2385Gln
NM_138270.3:c.7039A>C	NP_612114.2:p.Lys2347Gln
XM_005262153.3:c.7150A>C	XP_005262210.2:p.Lys2384Gln
XM_005262154.3:c.7066A>C	XP_005262211.2:p.Lys2356Gln
XM_005262155.3:c.7036A>C	XP_005262212.2:p.Lys2346Gln
XM_005262156.3:c.6988A>C	XP_005262213.2:p.Lys2330Gln
XM_005262157.3:c.6949A>C	XP_005262214.2:p.Lys2317Gln
XM_006724666.2:c.7036A>C	XP_006724729.1:p.Lys2346Gln
XM_006724667.2:c.6874A>C	XP_006724730.1:p.Lys2292Gln
XR_938400.1:n.8745A>C
NM_000489.5:c.7153A>C	NP_000480.3:p.Lys2385Gln
XM_005262153.5:c.7150A>C	XP_005262210.2:p.Lys2384Gln
XM_005262154.5:c.7066A>C	XP_005262211.2:p.Lys2356Gln
XM_005262155.4:c.7036A>C	XP_005262212.2:p.Lys2346Gln
XM_005262156.4:c.6988A>C	XP_005262213.2:p.Lys2330Gln
XM_005262157.5:c.6949A>C	XP_005262214.2:p.Lys2317Gln
XM_006724666.4:c.7036A>C	XP_006724729.1:p.Lys2346Gln
XM_006724667.3:c.6874A>C	XP_006724730.1:p.Lys2292Gln
XM_017029601.2:c.7063A>C	XP_016885090.1:p.Lys2355Gln
XM_017029602.1:c.7033A>C	XP_016885091.1:p.Lys2345Gln
XM_017029603.1:c.6985A>C	XP_016885092.1:p.Lys2329Gln
XM_017029604.2:c.6952A>C	XP_016885093.1:p.Lys2318Gln
XM_017029605.1:c.6949A>C	XP_016885094.1:p.Lys2317Gln
XM_017029606.2:c.6922A>C	XP_016885095.1:p.Lys2308Gln
XM_017029607.2:c.6919A>C	XP_016885096.1:p.Lys2307Gln
XM_017029608.2:c.6871A>C	XP_016885097.1:p.Lys2291Gln
XM_017029609.1:c.6835A>C	XP_016885098.1:p.Lys2279Gln
XM_017029610.1:c.6832A>C	XP_016885099.1:p.Lys2278Gln
XM_017029611.1:c.6787A>C	XP_016885100.1:p.Lys2263Gln
XR_001755700.2:n.7452A>C
NM_138270.4:c.7039A>C	NP_612114.2:p.Lys2347Gln
NM_000489.6:c.7153A>C MANE Select	NP_000480.3:p.Lys2385Gln
NM_138270.5:c.7039A>C	NP_612114.2:p.Lys2347Gln