Canonical Allele Identifier: CA413701251

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574341G>A , CM000685.2:g.77574341G>A	GRCh38
NC_000023.10:g.76829806G>A , CM000685.1:g.76829806G>A	GRCh37
NC_000023.9:g.76716462G>A	NCBI36
NG_008838.2:g.216881C>T
NG_008838.3:g.216929C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.6235C>T MANE Select	NP_000480.3:p.Arg2079Ter
ENST00000373344.11:c.6235C>T MANE Select	ENSP00000362441.4:p.Arg2079Ter
NM_000489.4:c.6235C>T	NP_000480.3:p.Arg2079Ter
NM_000489.5:c.6235C>T	NP_000480.3:p.Arg2079Ter
NM_138270.3:c.6121C>T	NP_612114.2:p.Arg2041Ter
NM_138270.4:c.6121C>T	NP_612114.2:p.Arg2041Ter
NM_138270.5:c.6121C>T	NP_612114.2:p.Arg2041Ter
ENST00000373344.9:c.6235C>T	ENSP00000362441.4:p.Arg2079Ter
ENST00000395603.7:c.6121C>T	ENSP00000378967.3:p.Arg2041Ter
ENST00000480283.5:c.*5863C>T	ENSP00000480196.1:n.*5863C>T
ENST00000623316.1:c.719C>T
ENST00000623706.3:n.3305C>T
ENST00000636152.1:n.70C>T
ENST00000675732.1:c.1333C>T	ENSP00000502598.1:p.Arg445Ter
XM_005262153.3:c.6232C>T	XP_005262210.2:p.Arg2078Ter
XM_005262153.5:c.6232C>T	XP_005262210.2:p.Arg2078Ter
XM_005262154.3:c.6148C>T	XP_005262211.2:p.Arg2050Ter
XM_005262154.5:c.6148C>T	XP_005262211.2:p.Arg2050Ter
XM_005262155.3:c.6118C>T	XP_005262212.2:p.Arg2040Ter
XM_005262155.4:c.6118C>T	XP_005262212.2:p.Arg2040Ter
XM_005262156.3:c.6070C>T	XP_005262213.2:p.Arg2024Ter
XM_005262156.4:c.6070C>T	XP_005262213.2:p.Arg2024Ter
XM_005262157.3:c.6031C>T	XP_005262214.2:p.Arg2011Ter
XM_005262157.5:c.6031C>T	XP_005262214.2:p.Arg2011Ter
XM_006724666.2:c.6118C>T	XP_006724729.1:p.Arg2040Ter
XM_006724666.4:c.6118C>T	XP_006724729.1:p.Arg2040Ter
XM_006724667.2:c.5956C>T	XP_006724730.1:p.Arg1986Ter
XM_006724667.3:c.5956C>T	XP_006724730.1:p.Arg1986Ter
XM_017029601.2:c.6145C>T	XP_016885090.1:p.Arg2049Ter
XM_017029602.1:c.6115C>T	XP_016885091.1:p.Arg2039Ter
XM_017029603.1:c.6067C>T	XP_016885092.1:p.Arg2023Ter
XM_017029604.2:c.6034C>T	XP_016885093.1:p.Arg2012Ter
XM_017029605.1:c.6031C>T	XP_016885094.1:p.Arg2011Ter
XM_017029606.2:c.6004C>T	XP_016885095.1:p.Arg2002Ter
XM_017029607.2:c.6001C>T	XP_016885096.1:p.Arg2001Ter
XM_017029608.2:c.5953C>T	XP_016885097.1:p.Arg1985Ter
XM_017029609.1:c.5917C>T	XP_016885098.1:p.Arg1973Ter
XM_017029610.1:c.5914C>T	XP_016885099.1:p.Arg1972Ter
XM_017029611.1:c.5869C>T	XP_016885100.1:p.Arg1957Ter
XR_001755700.2:n.6534C>T
XR_938400.1:n.6577C>T