Canonical Allele Identifier: CA413699485

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77663421T>C , CM000685.2:g.77663421T>C	GRCh38
NC_000023.10:g.76918910T>C , CM000685.1:g.76918910T>C	GRCh37
NC_000023.9:g.76805566T>C	NCBI36
NG_008838.2:g.127801A>G
NG_008838.3:g.127849A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.4081A>G MANE Select	NP_000480.3:p.Lys1361Glu
ENST00000373344.11:c.4081A>G MANE Select	ENSP00000362441.4:p.Lys1361Glu
NM_000489.4:c.4081A>G	NP_000480.3:p.Lys1361Glu
NM_000489.5:c.4081A>G	NP_000480.3:p.Lys1361Glu
NM_138270.3:c.3967A>G	NP_612114.2:p.Lys1323Glu
NM_138270.4:c.3967A>G	NP_612114.2:p.Lys1323Glu
NM_138270.5:c.3967A>G	NP_612114.2:p.Lys1323Glu
ENST00000373344.9:c.4081A>G	ENSP00000362441.4:p.Lys1361Glu
ENST00000395603.7:c.3967A>G	ENSP00000378967.3:p.Lys1323Glu
ENST00000480283.5:c.*3709A>G	ENSP00000480196.1:n.*3709A>G
ENST00000624166.3:c.3877A>G	ENSP00000485103.1:p.Lys1293Glu
XM_005262153.3:c.4078A>G	XP_005262210.2:p.Lys1360Glu
XM_005262153.5:c.4078A>G	XP_005262210.2:p.Lys1360Glu
XM_005262154.3:c.3994A>G	XP_005262211.2:p.Lys1332Glu
XM_005262154.5:c.3994A>G	XP_005262211.2:p.Lys1332Glu
XM_005262155.3:c.3964A>G	XP_005262212.2:p.Lys1322Glu
XM_005262155.4:c.3964A>G	XP_005262212.2:p.Lys1322Glu
XM_005262156.3:c.3916A>G	XP_005262213.2:p.Lys1306Glu
XM_005262156.4:c.3916A>G	XP_005262213.2:p.Lys1306Glu
XM_005262157.3:c.3877A>G	XP_005262214.2:p.Lys1293Glu
XM_005262157.5:c.3877A>G	XP_005262214.2:p.Lys1293Glu
XM_006724666.2:c.3964A>G	XP_006724729.1:p.Lys1322Glu
XM_006724666.4:c.3964A>G	XP_006724729.1:p.Lys1322Glu
XM_006724667.2:c.3802A>G	XP_006724730.1:p.Lys1268Glu
XM_006724667.3:c.3802A>G	XP_006724730.1:p.Lys1268Glu
XM_006724668.2:c.4081A>G	XP_006724731.1:p.Lys1361Glu
XM_006724668.3:c.4081A>G	XP_006724731.1:p.Lys1361Glu
XM_017029601.2:c.3991A>G	XP_016885090.1:p.Lys1331Glu
XM_017029602.1:c.3961A>G	XP_016885091.1:p.Lys1321Glu
XM_017029603.1:c.3913A>G	XP_016885092.1:p.Lys1305Glu
XM_017029604.2:c.3880A>G	XP_016885093.1:p.Lys1294Glu
XM_017029605.1:c.3877A>G	XP_016885094.1:p.Lys1293Glu
XM_017029606.2:c.3850A>G	XP_016885095.1:p.Lys1284Glu
XM_017029607.2:c.3847A>G	XP_016885096.1:p.Lys1283Glu
XM_017029608.2:c.3799A>G	XP_016885097.1:p.Lys1267Glu
XM_017029609.1:c.3763A>G	XP_016885098.1:p.Lys1255Glu
XM_017029610.1:c.3760A>G	XP_016885099.1:p.Lys1254Glu
XM_017029611.1:c.3715A>G	XP_016885100.1:p.Lys1239Glu
XR_001755700.2:n.4306A>G
XR_938400.1:n.4349A>G