Canonical Allele Identifier: CA413702377

Gene: ATRX

Linked Data

• dbSNP Id: rs2148089206
• MyVariant Identifiers: chrX:g.76845341C>G (hg19) ; chrX:g.77589871C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77589871C>G , CM000685.2:g.77589871C>G	GRCh38
NC_000023.10:g.76845341C>G , CM000685.1:g.76845341C>G	GRCh37
NC_000023.9:g.76731997C>G	NCBI36
NG_008838.2:g.201351G>C
NG_008838.3:g.201399G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6180G>C MANE Select	ENSP00000362441.4:p.Glu2060Asp
ENST00000636868.1:n.2G>C
ENST00000675732.1:c.1278G>C	ENSP00000502598.1:p.Glu426Asp
ENST00000373344.9:c.6180G>C	ENSP00000362441.4:p.Glu2060Asp
ENST00000395603.7:c.6066G>C	ENSP00000378967.3:p.Glu2022Asp
ENST00000480283.5:c.*5808G>C	ENSP00000480196.1:n.*5808G>C
ENST00000623316.1:c.664G>C
ENST00000623706.3:n.3250G>C
NM_000489.4:c.6180G>C	NP_000480.3:p.Glu2060Asp
NM_138270.3:c.6066G>C	NP_612114.2:p.Glu2022Asp
XM_005262153.3:c.6177G>C	XP_005262210.2:p.Glu2059Asp
XM_005262154.3:c.6093G>C	XP_005262211.2:p.Glu2031Asp
XM_005262155.3:c.6063G>C	XP_005262212.2:p.Glu2021Asp
XM_005262156.3:c.6015G>C	XP_005262213.2:p.Glu2005Asp
XM_005262157.3:c.5976G>C	XP_005262214.2:p.Glu1992Asp
XM_006724666.2:c.6063G>C	XP_006724729.1:p.Glu2021Asp
XM_006724667.2:c.5901G>C	XP_006724730.1:p.Glu1967Asp
XR_938400.1:n.6522G>C
NM_000489.5:c.6180G>C	NP_000480.3:p.Glu2060Asp
XM_005262153.5:c.6177G>C	XP_005262210.2:p.Glu2059Asp
XM_005262154.5:c.6093G>C	XP_005262211.2:p.Glu2031Asp
XM_005262155.4:c.6063G>C	XP_005262212.2:p.Glu2021Asp
XM_005262156.4:c.6015G>C	XP_005262213.2:p.Glu2005Asp
XM_005262157.5:c.5976G>C	XP_005262214.2:p.Glu1992Asp
XM_006724666.4:c.6063G>C	XP_006724729.1:p.Glu2021Asp
XM_006724667.3:c.5901G>C	XP_006724730.1:p.Glu1967Asp
XM_017029601.2:c.6090G>C	XP_016885090.1:p.Glu2030Asp
XM_017029602.1:c.6060G>C	XP_016885091.1:p.Glu2020Asp
XM_017029603.1:c.6012G>C	XP_016885092.1:p.Glu2004Asp
XM_017029604.2:c.5979G>C	XP_016885093.1:p.Glu1993Asp
XM_017029605.1:c.5976G>C	XP_016885094.1:p.Glu1992Asp
XM_017029606.2:c.5949G>C	XP_016885095.1:p.Glu1983Asp
XM_017029607.2:c.5946G>C	XP_016885096.1:p.Glu1982Asp
XM_017029608.2:c.5898G>C	XP_016885097.1:p.Glu1966Asp
XM_017029609.1:c.5862G>C	XP_016885098.1:p.Glu1954Asp
XM_017029610.1:c.5859G>C	XP_016885099.1:p.Glu1953Asp
XM_017029611.1:c.5814G>C	XP_016885100.1:p.Glu1938Asp
XR_001755700.2:n.6479G>C
NM_138270.4:c.6066G>C	NP_612114.2:p.Glu2022Asp
NM_000489.6:c.6180G>C MANE Select	NP_000480.3:p.Glu2060Asp
NM_138270.5:c.6066G>C	NP_612114.2:p.Glu2022Asp