Canonical Allele Identifier: CA413700885

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76829728C>G (hg19) ; chrX:g.77574263C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574263C>G , CM000685.2:g.77574263C>G	GRCh38
NC_000023.10:g.76829728C>G , CM000685.1:g.76829728C>G	GRCh37
NC_000023.9:g.76716384C>G	NCBI36
NG_008838.2:g.216959G>C
NG_008838.3:g.217007G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6313G>C MANE Select	ENSP00000362441.4:p.Glu2105Gln
ENST00000675732.1:c.1411G>C	ENSP00000502598.1:p.Glu471Gln
ENST00000373344.9:c.6313G>C	ENSP00000362441.4:p.Glu2105Gln
ENST00000395603.7:c.6199G>C	ENSP00000378967.3:p.Glu2067Gln
ENST00000480283.5:c.*5941G>C	ENSP00000480196.1:n.*5941G>C
ENST00000623316.1:c.797G>C
ENST00000623706.3:n.3383G>C
NM_000489.4:c.6313G>C	NP_000480.3:p.Glu2105Gln
NM_138270.3:c.6199G>C	NP_612114.2:p.Glu2067Gln
XM_005262153.3:c.6310G>C	XP_005262210.2:p.Glu2104Gln
XM_005262154.3:c.6226G>C	XP_005262211.2:p.Glu2076Gln
XM_005262155.3:c.6196G>C	XP_005262212.2:p.Glu2066Gln
XM_005262156.3:c.6148G>C	XP_005262213.2:p.Glu2050Gln
XM_005262157.3:c.6109G>C	XP_005262214.2:p.Glu2037Gln
XM_006724666.2:c.6196G>C	XP_006724729.1:p.Glu2066Gln
XM_006724667.2:c.6034G>C	XP_006724730.1:p.Glu2012Gln
XR_938400.1:n.6655G>C
NM_000489.5:c.6313G>C	NP_000480.3:p.Glu2105Gln
XM_005262153.5:c.6310G>C	XP_005262210.2:p.Glu2104Gln
XM_005262154.5:c.6226G>C	XP_005262211.2:p.Glu2076Gln
XM_005262155.4:c.6196G>C	XP_005262212.2:p.Glu2066Gln
XM_005262156.4:c.6148G>C	XP_005262213.2:p.Glu2050Gln
XM_005262157.5:c.6109G>C	XP_005262214.2:p.Glu2037Gln
XM_006724666.4:c.6196G>C	XP_006724729.1:p.Glu2066Gln
XM_006724667.3:c.6034G>C	XP_006724730.1:p.Glu2012Gln
XM_017029601.2:c.6223G>C	XP_016885090.1:p.Glu2075Gln
XM_017029602.1:c.6193G>C	XP_016885091.1:p.Glu2065Gln
XM_017029603.1:c.6145G>C	XP_016885092.1:p.Glu2049Gln
XM_017029604.2:c.6112G>C	XP_016885093.1:p.Glu2038Gln
XM_017029605.1:c.6109G>C	XP_016885094.1:p.Glu2037Gln
XM_017029606.2:c.6082G>C	XP_016885095.1:p.Glu2028Gln
XM_017029607.2:c.6079G>C	XP_016885096.1:p.Glu2027Gln
XM_017029608.2:c.6031G>C	XP_016885097.1:p.Glu2011Gln
XM_017029609.1:c.5995G>C	XP_016885098.1:p.Glu1999Gln
XM_017029610.1:c.5992G>C	XP_016885099.1:p.Glu1998Gln
XM_017029611.1:c.5947G>C	XP_016885100.1:p.Glu1983Gln
XR_001755700.2:n.6612G>C
NM_138270.4:c.6199G>C	NP_612114.2:p.Glu2067Gln
NM_000489.6:c.6313G>C MANE Select	NP_000480.3:p.Glu2105Gln
NM_138270.5:c.6199G>C	NP_612114.2:p.Glu2067Gln