Canonical Allele Identifier: CA413702706

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77593702T>C , CM000685.2:g.77593702T>C	GRCh38
NC_000023.10:g.76849172T>C , CM000685.1:g.76849172T>C	GRCh37
NC_000023.9:g.76735828T>C	NCBI36
NG_008838.2:g.197520A>G
NG_008838.3:g.197568A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.6104A>G MANE Select	NP_000480.3:p.Asp2035Gly
ENST00000373344.11:c.6104A>G MANE Select	ENSP00000362441.4:p.Asp2035Gly
NM_000489.4:c.6104A>G	NP_000480.3:p.Asp2035Gly
NM_000489.5:c.6104A>G	NP_000480.3:p.Asp2035Gly
NM_138270.3:c.5990A>G	NP_612114.2:p.Asp1997Gly
NM_138270.4:c.5990A>G	NP_612114.2:p.Asp1997Gly
NM_138270.5:c.5990A>G	NP_612114.2:p.Asp1997Gly
ENST00000373344.9:c.6104A>G	ENSP00000362441.4:p.Asp2035Gly
ENST00000395603.7:c.5990A>G	ENSP00000378967.3:p.Asp1997Gly
ENST00000480283.5:c.*5732A>G	ENSP00000480196.1:n.*5732A>G
ENST00000623316.1:c.588A>G
ENST00000623706.3:n.3174A>G
ENST00000675732.1:c.1202A>G	ENSP00000502598.1:p.Asp401Gly
XM_005262153.3:c.6101A>G	XP_005262210.2:p.Asp2034Gly
XM_005262153.5:c.6101A>G	XP_005262210.2:p.Asp2034Gly
XM_005262154.3:c.6017A>G	XP_005262211.2:p.Asp2006Gly
XM_005262154.5:c.6017A>G	XP_005262211.2:p.Asp2006Gly
XM_005262155.3:c.5987A>G	XP_005262212.2:p.Asp1996Gly
XM_005262155.4:c.5987A>G	XP_005262212.2:p.Asp1996Gly
XM_005262156.3:c.5939A>G	XP_005262213.2:p.Asp1980Gly
XM_005262156.4:c.5939A>G	XP_005262213.2:p.Asp1980Gly
XM_005262157.3:c.5900A>G	XP_005262214.2:p.Asp1967Gly
XM_005262157.5:c.5900A>G	XP_005262214.2:p.Asp1967Gly
XM_006724666.2:c.5987A>G	XP_006724729.1:p.Asp1996Gly
XM_006724666.4:c.5987A>G	XP_006724729.1:p.Asp1996Gly
XM_006724667.2:c.5825A>G	XP_006724730.1:p.Asp1942Gly
XM_006724667.3:c.5825A>G	XP_006724730.1:p.Asp1942Gly
XM_017029601.2:c.6014A>G	XP_016885090.1:p.Asp2005Gly
XM_017029602.1:c.5984A>G	XP_016885091.1:p.Asp1995Gly
XM_017029603.1:c.5936A>G	XP_016885092.1:p.Asp1979Gly
XM_017029604.2:c.5903A>G	XP_016885093.1:p.Asp1968Gly
XM_017029605.1:c.5900A>G	XP_016885094.1:p.Asp1967Gly
XM_017029606.2:c.5873A>G	XP_016885095.1:p.Asp1958Gly
XM_017029607.2:c.5870A>G	XP_016885096.1:p.Asp1957Gly
XM_017029608.2:c.5822A>G	XP_016885097.1:p.Asp1941Gly
XM_017029609.1:c.5786A>G	XP_016885098.1:p.Asp1929Gly
XM_017029610.1:c.5783A>G	XP_016885099.1:p.Asp1928Gly
XM_017029611.1:c.5738A>G	XP_016885100.1:p.Asp1913Gly
XR_001755700.2:n.6403A>G
XR_938400.1:n.6446A>G