Canonical Allele Identifier: CA517374841

Gene: ATRX

Linked Data

• gnomAD v4: X-77574351-C-G
• MyVariant Identifiers: chrX:g.76829816C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574351C>G , CM000685.2:g.77574351C>G	GRCh38
NC_000023.10:g.76829816C>G , CM000685.1:g.76829816C>G	GRCh37
NC_000023.9:g.76716472C>G	NCBI36
NG_008838.2:g.216871G>C
NG_008838.3:g.216919G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6225G>C MANE Select	ENSP00000362441.4:p.Gly2075=
ENST00000636152.1:n.60G>C
ENST00000675732.1:c.1323G>C	ENSP00000502598.1:p.Gly441=
ENST00000373344.9:c.6225G>C	ENSP00000362441.4:p.Gly2075=
ENST00000395603.7:c.6111G>C	ENSP00000378967.3:p.Gly2037=
ENST00000480283.5:c.*5853G>C	ENSP00000480196.1:n.*5853G>C
ENST00000623316.1:c.709G>C
ENST00000623706.3:n.3295G>C
NM_000489.4:c.6225G>C	NP_000480.3:p.Gly2075=
NM_138270.3:c.6111G>C	NP_612114.2:p.Gly2037=
XM_005262153.3:c.6222G>C	XP_005262210.2:p.Gly2074=
XM_005262154.3:c.6138G>C	XP_005262211.2:p.Gly2046=
XM_005262155.3:c.6108G>C	XP_005262212.2:p.Gly2036=
XM_005262156.3:c.6060G>C	XP_005262213.2:p.Gly2020=
XM_005262157.3:c.6021G>C	XP_005262214.2:p.Gly2007=
XM_006724666.2:c.6108G>C	XP_006724729.1:p.Gly2036=
XM_006724667.2:c.5946G>C	XP_006724730.1:p.Gly1982=
XR_938400.1:n.6567G>C
NM_000489.5:c.6225G>C	NP_000480.3:p.Gly2075=
XM_005262153.5:c.6222G>C	XP_005262210.2:p.Gly2074=
XM_005262154.5:c.6138G>C	XP_005262211.2:p.Gly2046=
XM_005262155.4:c.6108G>C	XP_005262212.2:p.Gly2036=
XM_005262156.4:c.6060G>C	XP_005262213.2:p.Gly2020=
XM_005262157.5:c.6021G>C	XP_005262214.2:p.Gly2007=
XM_006724666.4:c.6108G>C	XP_006724729.1:p.Gly2036=
XM_006724667.3:c.5946G>C	XP_006724730.1:p.Gly1982=
XM_017029601.2:c.6135G>C	XP_016885090.1:p.Gly2045=
XM_017029602.1:c.6105G>C	XP_016885091.1:p.Gly2035=
XM_017029603.1:c.6057G>C	XP_016885092.1:p.Gly2019=
XM_017029604.2:c.6024G>C	XP_016885093.1:p.Gly2008=
XM_017029605.1:c.6021G>C	XP_016885094.1:p.Gly2007=
XM_017029606.2:c.5994G>C	XP_016885095.1:p.Gly1998=
XM_017029607.2:c.5991G>C	XP_016885096.1:p.Gly1997=
XM_017029608.2:c.5943G>C	XP_016885097.1:p.Gly1981=
XM_017029609.1:c.5907G>C	XP_016885098.1:p.Gly1969=
XM_017029610.1:c.5904G>C	XP_016885099.1:p.Gly1968=
XM_017029611.1:c.5859G>C	XP_016885100.1:p.Gly1953=
XR_001755700.2:n.6524G>C
NM_138270.4:c.6111G>C	NP_612114.2:p.Gly2037=
NM_000489.6:c.6225G>C MANE Select	NP_000480.3:p.Gly2075=
NM_138270.5:c.6111G>C	NP_612114.2:p.Gly2037=