Canonical Allele Identifier: CA413701257

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76829809G>C (hg19) ; chrX:g.77574344G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574344G>C , CM000685.2:g.77574344G>C	GRCh38
NC_000023.10:g.76829809G>C , CM000685.1:g.76829809G>C	GRCh37
NC_000023.9:g.76716465G>C	NCBI36
NG_008838.2:g.216878C>G
NG_008838.3:g.216926C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6232C>G MANE Select	ENSP00000362441.4:p.Leu2078Val
ENST00000636152.1:n.67C>G
ENST00000675732.1:c.1330C>G	ENSP00000502598.1:p.Leu444Val
ENST00000373344.9:c.6232C>G	ENSP00000362441.4:p.Leu2078Val
ENST00000395603.7:c.6118C>G	ENSP00000378967.3:p.Leu2040Val
ENST00000480283.5:c.*5860C>G	ENSP00000480196.1:n.*5860C>G
ENST00000623316.1:c.716C>G
ENST00000623706.3:n.3302C>G
NM_000489.4:c.6232C>G	NP_000480.3:p.Leu2078Val
NM_138270.3:c.6118C>G	NP_612114.2:p.Leu2040Val
XM_005262153.3:c.6229C>G	XP_005262210.2:p.Leu2077Val
XM_005262154.3:c.6145C>G	XP_005262211.2:p.Leu2049Val
XM_005262155.3:c.6115C>G	XP_005262212.2:p.Leu2039Val
XM_005262156.3:c.6067C>G	XP_005262213.2:p.Leu2023Val
XM_005262157.3:c.6028C>G	XP_005262214.2:p.Leu2010Val
XM_006724666.2:c.6115C>G	XP_006724729.1:p.Leu2039Val
XM_006724667.2:c.5953C>G	XP_006724730.1:p.Leu1985Val
XR_938400.1:n.6574C>G
NM_000489.5:c.6232C>G	NP_000480.3:p.Leu2078Val
XM_005262153.5:c.6229C>G	XP_005262210.2:p.Leu2077Val
XM_005262154.5:c.6145C>G	XP_005262211.2:p.Leu2049Val
XM_005262155.4:c.6115C>G	XP_005262212.2:p.Leu2039Val
XM_005262156.4:c.6067C>G	XP_005262213.2:p.Leu2023Val
XM_005262157.5:c.6028C>G	XP_005262214.2:p.Leu2010Val
XM_006724666.4:c.6115C>G	XP_006724729.1:p.Leu2039Val
XM_006724667.3:c.5953C>G	XP_006724730.1:p.Leu1985Val
XM_017029601.2:c.6142C>G	XP_016885090.1:p.Leu2048Val
XM_017029602.1:c.6112C>G	XP_016885091.1:p.Leu2038Val
XM_017029603.1:c.6064C>G	XP_016885092.1:p.Leu2022Val
XM_017029604.2:c.6031C>G	XP_016885093.1:p.Leu2011Val
XM_017029605.1:c.6028C>G	XP_016885094.1:p.Leu2010Val
XM_017029606.2:c.6001C>G	XP_016885095.1:p.Leu2001Val
XM_017029607.2:c.5998C>G	XP_016885096.1:p.Leu2000Val
XM_017029608.2:c.5950C>G	XP_016885097.1:p.Leu1984Val
XM_017029609.1:c.5914C>G	XP_016885098.1:p.Leu1972Val
XM_017029610.1:c.5911C>G	XP_016885099.1:p.Leu1971Val
XM_017029611.1:c.5866C>G	XP_016885100.1:p.Leu1956Val
XR_001755700.2:n.6531C>G
NM_138270.4:c.6118C>G	NP_612114.2:p.Leu2040Val
NM_000489.6:c.6232C>G MANE Select	NP_000480.3:p.Leu2078Val
NM_138270.5:c.6118C>G	NP_612114.2:p.Leu2040Val