Canonical Allele Identifier: CA413697888

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77599732T>C , CM000685.2:g.77599732T>C	GRCh38
NC_000023.10:g.76855201T>C , CM000685.1:g.76855201T>C	GRCh37
NC_000023.9:g.76741857T>C	NCBI36
NG_008838.2:g.191490A>G
NG_008838.3:g.191538A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.5786A>G MANE Select	NP_000480.3:p.Lys1929Arg
ENST00000373344.11:c.5786A>G MANE Select	ENSP00000362441.4:p.Lys1929Arg
NM_000489.4:c.5786A>G	NP_000480.3:p.Lys1929Arg
NM_000489.5:c.5786A>G	NP_000480.3:p.Lys1929Arg
NM_138270.3:c.5672A>G	NP_612114.2:p.Lys1891Arg
NM_138270.4:c.5672A>G	NP_612114.2:p.Lys1891Arg
NM_138270.5:c.5672A>G	NP_612114.2:p.Lys1891Arg
ENST00000373344.9:c.5786A>G	ENSP00000362441.4:p.Lys1929Arg
ENST00000395603.7:c.5672A>G	ENSP00000378967.3:p.Lys1891Arg
ENST00000480283.5:c.*5414A>G	ENSP00000480196.1:n.*5414A>G
ENST00000623316.1:c.196A>G
ENST00000675732.1:c.884A>G	ENSP00000502598.1:p.Lys295Arg
XM_005262153.3:c.5783A>G	XP_005262210.2:p.Lys1928Arg
XM_005262153.5:c.5783A>G	XP_005262210.2:p.Lys1928Arg
XM_005262154.3:c.5699A>G	XP_005262211.2:p.Lys1900Arg
XM_005262154.5:c.5699A>G	XP_005262211.2:p.Lys1900Arg
XM_005262155.3:c.5669A>G	XP_005262212.2:p.Lys1890Arg
XM_005262155.4:c.5669A>G	XP_005262212.2:p.Lys1890Arg
XM_005262156.3:c.5621A>G	XP_005262213.2:p.Lys1874Arg
XM_005262156.4:c.5621A>G	XP_005262213.2:p.Lys1874Arg
XM_005262157.3:c.5582A>G	XP_005262214.2:p.Lys1861Arg
XM_005262157.5:c.5582A>G	XP_005262214.2:p.Lys1861Arg
XM_006724666.2:c.5669A>G	XP_006724729.1:p.Lys1890Arg
XM_006724666.4:c.5669A>G	XP_006724729.1:p.Lys1890Arg
XM_006724667.2:c.5507A>G	XP_006724730.1:p.Lys1836Arg
XM_006724667.3:c.5507A>G	XP_006724730.1:p.Lys1836Arg
XM_017029601.2:c.5696A>G	XP_016885090.1:p.Lys1899Arg
XM_017029602.1:c.5666A>G	XP_016885091.1:p.Lys1889Arg
XM_017029603.1:c.5618A>G	XP_016885092.1:p.Lys1873Arg
XM_017029604.2:c.5585A>G	XP_016885093.1:p.Lys1862Arg
XM_017029605.1:c.5582A>G	XP_016885094.1:p.Lys1861Arg
XM_017029606.2:c.5555A>G	XP_016885095.1:p.Lys1852Arg
XM_017029607.2:c.5552A>G	XP_016885096.1:p.Lys1851Arg
XM_017029608.2:c.5504A>G	XP_016885097.1:p.Lys1835Arg
XM_017029609.1:c.5468A>G	XP_016885098.1:p.Lys1823Arg
XM_017029610.1:c.5465A>G	XP_016885099.1:p.Lys1822Arg
XM_017029611.1:c.5420A>G	XP_016885100.1:p.Lys1807Arg
XR_001755700.2:n.6011A>G
XR_938400.1:n.6054A>G