Canonical Allele Identifier: CA413720749

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77684505T>C , CM000685.2:g.77684505T>C	GRCh38
NC_000023.10:g.76939997T>C , CM000685.1:g.76939997T>C	GRCh37
NC_000023.9:g.76826653T>C	NCBI36
NG_008838.2:g.106717A>G
NG_008838.3:g.106765A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.751A>G MANE Select	NP_000480.3:p.Lys251Glu
ENST00000373344.11:c.751A>G MANE Select	ENSP00000362441.4:p.Lys251Glu
NM_000489.4:c.751A>G	NP_000480.3:p.Lys251Glu
NM_000489.5:c.751A>G	NP_000480.3:p.Lys251Glu
NM_138270.3:c.637A>G	NP_612114.2:p.Lys213Glu
NM_138270.4:c.637A>G	NP_612114.2:p.Lys213Glu
NM_138270.5:c.637A>G	NP_612114.2:p.Lys213Glu
ENST00000373344.9:c.751A>G	ENSP00000362441.4:p.Lys251Glu
ENST00000395603.7:c.637A>G	ENSP00000378967.3:p.Lys213Glu
ENST00000480283.5:c.*379A>G	ENSP00000480196.1:n.*379A>G
ENST00000623321.3:c.586A>G	ENSP00000485127.1:p.Lys196Glu
ENST00000624032.3:c.751A>G	ENSP00000485253.1:p.Lys251Glu
ENST00000624166.3:c.634A>G	ENSP00000485103.1:p.Lys212Glu
ENST00000625063.3:c.566A>G
XM_005262153.3:c.748A>G	XP_005262210.2:p.Lys250Glu
XM_005262153.5:c.748A>G	XP_005262210.2:p.Lys250Glu
XM_005262154.3:c.751A>G	XP_005262211.2:p.Lys251Glu
XM_005262154.5:c.751A>G	XP_005262211.2:p.Lys251Glu
XM_005262155.3:c.634A>G	XP_005262212.2:p.Lys212Glu
XM_005262155.4:c.634A>G	XP_005262212.2:p.Lys212Glu
XM_005262156.3:c.586A>G	XP_005262213.2:p.Lys196Glu
XM_005262156.4:c.586A>G	XP_005262213.2:p.Lys196Glu
XM_005262157.3:c.634A>G	XP_005262214.2:p.Lys212Glu
XM_005262157.5:c.634A>G	XP_005262214.2:p.Lys212Glu
XM_006724666.2:c.634A>G	XP_006724729.1:p.Lys212Glu
XM_006724666.4:c.634A>G	XP_006724729.1:p.Lys212Glu
XM_006724667.2:c.472A>G	XP_006724730.1:p.Lys158Glu
XM_006724667.3:c.472A>G	XP_006724730.1:p.Lys158Glu
XM_006724668.2:c.751A>G	XP_006724731.1:p.Lys251Glu
XM_006724668.3:c.751A>G	XP_006724731.1:p.Lys251Glu
XM_017029601.2:c.748A>G	XP_016885090.1:p.Lys250Glu
XM_017029602.1:c.631A>G	XP_016885091.1:p.Lys211Glu
XM_017029603.1:c.583A>G	XP_016885092.1:p.Lys195Glu
XM_017029604.2:c.637A>G	XP_016885093.1:p.Lys213Glu
XM_017029605.1:c.634A>G	XP_016885094.1:p.Lys212Glu
XM_017029606.2:c.520A>G	XP_016885095.1:p.Lys174Glu
XM_017029607.2:c.517A>G	XP_016885096.1:p.Lys173Glu
XM_017029608.2:c.469A>G	XP_016885097.1:p.Lys157Glu
XM_017029609.1:c.520A>G	XP_016885098.1:p.Lys174Glu
XM_017029610.1:c.517A>G	XP_016885099.1:p.Lys173Glu
XM_017029611.1:c.472A>G	XP_016885100.1:p.Lys158Glu
XR_001755700.2:n.976A>G
XR_938400.1:n.1019A>G