Canonical Allele Identifier: CA10457930

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77681632T>C , CM000685.2:g.77681632T>C	GRCh38
NC_000023.10:g.76937124T>C , CM000685.1:g.76937124T>C	GRCh37
NC_000023.9:g.76823780T>C	NCBI36
NG_008838.2:g.109590A>G
NG_008838.3:g.109638A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.3624A>G MANE Select	NP_000480.3:p.Ile1208Met
ENST00000373344.11:c.3624A>G MANE Select	ENSP00000362441.4:p.Ile1208Met
NM_000489.4:c.3624A>G	NP_000480.3:p.Ile1208Met
NM_000489.5:c.3624A>G	NP_000480.3:p.Ile1208Met
NM_138270.3:c.3510A>G	NP_612114.2:p.Ile1170Met
NM_138270.4:c.3510A>G	NP_612114.2:p.Ile1170Met
NM_138270.5:c.3510A>G	NP_612114.2:p.Ile1170Met
ENST00000373344.9:c.3624A>G	ENSP00000362441.4:p.Ile1208Met
ENST00000395603.7:c.3510A>G	ENSP00000378967.3:p.Ile1170Met
ENST00000480283.5:c.*3252A>G	ENSP00000480196.1:n.*3252A>G
ENST00000493470.2:c.510A>G	ENSP00000485408.1:p.Ile170Met
ENST00000624166.3:c.3420A>G	ENSP00000485103.1:p.Ile1140Met
XM_005262153.3:c.3621A>G	XP_005262210.2:p.Ile1207Met
XM_005262153.5:c.3621A>G	XP_005262210.2:p.Ile1207Met
XM_005262154.3:c.3537A>G	XP_005262211.2:p.Ile1179Met
XM_005262154.5:c.3537A>G	XP_005262211.2:p.Ile1179Met
XM_005262155.3:c.3507A>G	XP_005262212.2:p.Ile1169Met
XM_005262155.4:c.3507A>G	XP_005262212.2:p.Ile1169Met
XM_005262156.3:c.3459A>G	XP_005262213.2:p.Ile1153Met
XM_005262156.4:c.3459A>G	XP_005262213.2:p.Ile1153Met
XM_005262157.3:c.3420A>G	XP_005262214.2:p.Ile1140Met
XM_005262157.5:c.3420A>G	XP_005262214.2:p.Ile1140Met
XM_006724666.2:c.3507A>G	XP_006724729.1:p.Ile1169Met
XM_006724666.4:c.3507A>G	XP_006724729.1:p.Ile1169Met
XM_006724667.2:c.3345A>G	XP_006724730.1:p.Ile1115Met
XM_006724667.3:c.3345A>G	XP_006724730.1:p.Ile1115Met
XM_006724668.2:c.3624A>G	XP_006724731.1:p.Ile1208Met
XM_006724668.3:c.3624A>G	XP_006724731.1:p.Ile1208Met
XM_017029601.2:c.3534A>G	XP_016885090.1:p.Ile1178Met
XM_017029602.1:c.3504A>G	XP_016885091.1:p.Ile1168Met
XM_017029603.1:c.3456A>G	XP_016885092.1:p.Ile1152Met
XM_017029604.2:c.3423A>G	XP_016885093.1:p.Ile1141Met
XM_017029605.1:c.3420A>G	XP_016885094.1:p.Ile1140Met
XM_017029606.2:c.3393A>G	XP_016885095.1:p.Ile1131Met
XM_017029607.2:c.3390A>G	XP_016885096.1:p.Ile1130Met
XM_017029608.2:c.3342A>G	XP_016885097.1:p.Ile1114Met
XM_017029609.1:c.3306A>G	XP_016885098.1:p.Ile1102Met
XM_017029610.1:c.3303A>G	XP_016885099.1:p.Ile1101Met
XM_017029611.1:c.3258A>G	XP_016885100.1:p.Ile1086Met
XR_001755700.2:n.3849A>G
XR_938400.1:n.3892A>G