Canonical Allele Identifier: CA413701306

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76829823C>G (hg19) ; chrX:g.77574358C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574358C>G , CM000685.2:g.77574358C>G	GRCh38
NC_000023.10:g.76829823C>G , CM000685.1:g.76829823C>G	GRCh37
NC_000023.9:g.76716479C>G	NCBI36
NG_008838.2:g.216864G>C
NG_008838.3:g.216912G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6218G>C MANE Select	ENSP00000362441.4:p.Gly2073Ala
ENST00000636152.1:n.53G>C
ENST00000675732.1:c.1316G>C	ENSP00000502598.1:p.Gly439Ala
ENST00000373344.9:c.6218G>C	ENSP00000362441.4:p.Gly2073Ala
ENST00000395603.7:c.6104G>C	ENSP00000378967.3:p.Gly2035Ala
ENST00000480283.5:c.*5846G>C	ENSP00000480196.1:n.*5846G>C
ENST00000623316.1:c.702G>C
ENST00000623706.3:n.3288G>C
NM_000489.4:c.6218G>C	NP_000480.3:p.Gly2073Ala
NM_138270.3:c.6104G>C	NP_612114.2:p.Gly2035Ala
XM_005262153.3:c.6215G>C	XP_005262210.2:p.Gly2072Ala
XM_005262154.3:c.6131G>C	XP_005262211.2:p.Gly2044Ala
XM_005262155.3:c.6101G>C	XP_005262212.2:p.Gly2034Ala
XM_005262156.3:c.6053G>C	XP_005262213.2:p.Gly2018Ala
XM_005262157.3:c.6014G>C	XP_005262214.2:p.Gly2005Ala
XM_006724666.2:c.6101G>C	XP_006724729.1:p.Gly2034Ala
XM_006724667.2:c.5939G>C	XP_006724730.1:p.Gly1980Ala
XR_938400.1:n.6560G>C
NM_000489.5:c.6218G>C	NP_000480.3:p.Gly2073Ala
XM_005262153.5:c.6215G>C	XP_005262210.2:p.Gly2072Ala
XM_005262154.5:c.6131G>C	XP_005262211.2:p.Gly2044Ala
XM_005262155.4:c.6101G>C	XP_005262212.2:p.Gly2034Ala
XM_005262156.4:c.6053G>C	XP_005262213.2:p.Gly2018Ala
XM_005262157.5:c.6014G>C	XP_005262214.2:p.Gly2005Ala
XM_006724666.4:c.6101G>C	XP_006724729.1:p.Gly2034Ala
XM_006724667.3:c.5939G>C	XP_006724730.1:p.Gly1980Ala
XM_017029601.2:c.6128G>C	XP_016885090.1:p.Gly2043Ala
XM_017029602.1:c.6098G>C	XP_016885091.1:p.Gly2033Ala
XM_017029603.1:c.6050G>C	XP_016885092.1:p.Gly2017Ala
XM_017029604.2:c.6017G>C	XP_016885093.1:p.Gly2006Ala
XM_017029605.1:c.6014G>C	XP_016885094.1:p.Gly2005Ala
XM_017029606.2:c.5987G>C	XP_016885095.1:p.Gly1996Ala
XM_017029607.2:c.5984G>C	XP_016885096.1:p.Gly1995Ala
XM_017029608.2:c.5936G>C	XP_016885097.1:p.Gly1979Ala
XM_017029609.1:c.5900G>C	XP_016885098.1:p.Gly1967Ala
XM_017029610.1:c.5897G>C	XP_016885099.1:p.Gly1966Ala
XM_017029611.1:c.5852G>C	XP_016885100.1:p.Gly1951Ala
XR_001755700.2:n.6517G>C
NM_138270.4:c.6104G>C	NP_612114.2:p.Gly2035Ala
NM_000489.6:c.6218G>C MANE Select	NP_000480.3:p.Gly2073Ala
NM_138270.5:c.6104G>C	NP_612114.2:p.Gly2035Ala