Canonical Allele Identifier: CA517374751

Gene: ATRX

Linked Data

• gnomAD v4: X-77574261-T-C
• MyVariant Identifiers: chrX:g.76829726T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574261T>C , CM000685.2:g.77574261T>C	GRCh38
NC_000023.10:g.76829726T>C , CM000685.1:g.76829726T>C	GRCh37
NC_000023.9:g.76716382T>C	NCBI36
NG_008838.2:g.216961A>G
NG_008838.3:g.217009A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6315A>G MANE Select	ENSP00000362441.4:p.Glu2105=
ENST00000675732.1:c.1413A>G	ENSP00000502598.1:p.Glu471=
ENST00000373344.9:c.6315A>G	ENSP00000362441.4:p.Glu2105=
ENST00000395603.7:c.6201A>G	ENSP00000378967.3:p.Glu2067=
ENST00000480283.5:c.*5943A>G	ENSP00000480196.1:n.*5943A>G
ENST00000623316.1:c.799A>G
ENST00000623706.3:n.3385A>G
NM_000489.4:c.6315A>G	NP_000480.3:p.Glu2105=
NM_138270.3:c.6201A>G	NP_612114.2:p.Glu2067=
XM_005262153.3:c.6312A>G	XP_005262210.2:p.Glu2104=
XM_005262154.3:c.6228A>G	XP_005262211.2:p.Glu2076=
XM_005262155.3:c.6198A>G	XP_005262212.2:p.Glu2066=
XM_005262156.3:c.6150A>G	XP_005262213.2:p.Glu2050=
XM_005262157.3:c.6111A>G	XP_005262214.2:p.Glu2037=
XM_006724666.2:c.6198A>G	XP_006724729.1:p.Glu2066=
XM_006724667.2:c.6036A>G	XP_006724730.1:p.Glu2012=
XR_938400.1:n.6657A>G
NM_000489.5:c.6315A>G	NP_000480.3:p.Glu2105=
XM_005262153.5:c.6312A>G	XP_005262210.2:p.Glu2104=
XM_005262154.5:c.6228A>G	XP_005262211.2:p.Glu2076=
XM_005262155.4:c.6198A>G	XP_005262212.2:p.Glu2066=
XM_005262156.4:c.6150A>G	XP_005262213.2:p.Glu2050=
XM_005262157.5:c.6111A>G	XP_005262214.2:p.Glu2037=
XM_006724666.4:c.6198A>G	XP_006724729.1:p.Glu2066=
XM_006724667.3:c.6036A>G	XP_006724730.1:p.Glu2012=
XM_017029601.2:c.6225A>G	XP_016885090.1:p.Glu2075=
XM_017029602.1:c.6195A>G	XP_016885091.1:p.Glu2065=
XM_017029603.1:c.6147A>G	XP_016885092.1:p.Glu2049=
XM_017029604.2:c.6114A>G	XP_016885093.1:p.Glu2038=
XM_017029605.1:c.6111A>G	XP_016885094.1:p.Glu2037=
XM_017029606.2:c.6084A>G	XP_016885095.1:p.Glu2028=
XM_017029607.2:c.6081A>G	XP_016885096.1:p.Glu2027=
XM_017029608.2:c.6033A>G	XP_016885097.1:p.Glu2011=
XM_017029609.1:c.5997A>G	XP_016885098.1:p.Glu1999=
XM_017029610.1:c.5994A>G	XP_016885099.1:p.Glu1998=
XM_017029611.1:c.5949A>G	XP_016885100.1:p.Glu1983=
XR_001755700.2:n.6614A>G
NM_138270.4:c.6201A>G	NP_612114.2:p.Glu2067=
NM_000489.6:c.6315A>G MANE Select	NP_000480.3:p.Glu2105=
NM_138270.5:c.6201A>G	NP_612114.2:p.Glu2067=