Canonical Allele Identifier: CA413719060

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77684044C>G , CM000685.2:g.77684044C>G	GRCh38
NC_000023.10:g.76939536C>G , CM000685.1:g.76939536C>G	GRCh37
NC_000023.9:g.76826192C>G	NCBI36
NG_008838.2:g.107178G>C
NG_008838.3:g.107226G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.1212G>C MANE Select	NP_000480.3:p.Lys404Asn
ENST00000373344.11:c.1212G>C MANE Select	ENSP00000362441.4:p.Lys404Asn
NM_000489.4:c.1212G>C	NP_000480.3:p.Lys404Asn
NM_000489.5:c.1212G>C	NP_000480.3:p.Lys404Asn
NM_138270.3:c.1098G>C	NP_612114.2:p.Lys366Asn
NM_138270.4:c.1098G>C	NP_612114.2:p.Lys366Asn
NM_138270.5:c.1098G>C	NP_612114.2:p.Lys366Asn
ENST00000373344.9:c.1212G>C	ENSP00000362441.4:p.Lys404Asn
ENST00000395603.7:c.1098G>C	ENSP00000378967.3:p.Lys366Asn
ENST00000480283.5:c.*840G>C	ENSP00000480196.1:n.*840G>C
ENST00000623321.3:c.1047G>C	ENSP00000485127.1:p.Lys349Asn
ENST00000624032.3:c.1212G>C	ENSP00000485253.1:p.Lys404Asn
ENST00000624166.3:c.1095G>C	ENSP00000485103.1:p.Lys365Asn
XM_005262153.3:c.1209G>C	XP_005262210.2:p.Lys403Asn
XM_005262153.5:c.1209G>C	XP_005262210.2:p.Lys403Asn
XM_005262154.3:c.1212G>C	XP_005262211.2:p.Lys404Asn
XM_005262154.5:c.1212G>C	XP_005262211.2:p.Lys404Asn
XM_005262155.3:c.1095G>C	XP_005262212.2:p.Lys365Asn
XM_005262155.4:c.1095G>C	XP_005262212.2:p.Lys365Asn
XM_005262156.3:c.1047G>C	XP_005262213.2:p.Lys349Asn
XM_005262156.4:c.1047G>C	XP_005262213.2:p.Lys349Asn
XM_005262157.3:c.1095G>C	XP_005262214.2:p.Lys365Asn
XM_005262157.5:c.1095G>C	XP_005262214.2:p.Lys365Asn
XM_006724666.2:c.1095G>C	XP_006724729.1:p.Lys365Asn
XM_006724666.4:c.1095G>C	XP_006724729.1:p.Lys365Asn
XM_006724667.2:c.933G>C	XP_006724730.1:p.Lys311Asn
XM_006724667.3:c.933G>C	XP_006724730.1:p.Lys311Asn
XM_006724668.2:c.1212G>C	XP_006724731.1:p.Lys404Asn
XM_006724668.3:c.1212G>C	XP_006724731.1:p.Lys404Asn
XM_017029601.2:c.1209G>C	XP_016885090.1:p.Lys403Asn
XM_017029602.1:c.1092G>C	XP_016885091.1:p.Lys364Asn
XM_017029603.1:c.1044G>C	XP_016885092.1:p.Lys348Asn
XM_017029604.2:c.1098G>C	XP_016885093.1:p.Lys366Asn
XM_017029605.1:c.1095G>C	XP_016885094.1:p.Lys365Asn
XM_017029606.2:c.981G>C	XP_016885095.1:p.Lys327Asn
XM_017029607.2:c.978G>C	XP_016885096.1:p.Lys326Asn
XM_017029608.2:c.930G>C	XP_016885097.1:p.Lys310Asn
XM_017029609.1:c.981G>C	XP_016885098.1:p.Lys327Asn
XM_017029610.1:c.978G>C	XP_016885099.1:p.Lys326Asn
XM_017029611.1:c.933G>C	XP_016885100.1:p.Lys311Asn
XR_001755700.2:n.1437G>C
XR_938400.1:n.1480G>C