Canonical Allele Identifier: CA10457863

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77663549T>C , CM000685.2:g.77663549T>C	GRCh38
NC_000023.10:g.76919038T>C , CM000685.1:g.76919038T>C	GRCh37
NC_000023.9:g.76805694T>C	NCBI36
NG_008838.2:g.127673A>G
NG_008838.3:g.127721A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.3953A>G MANE Select	NP_000480.3:p.Asn1318Ser
ENST00000373344.11:c.3953A>G MANE Select	ENSP00000362441.4:p.Asn1318Ser
NM_000489.4:c.3953A>G	NP_000480.3:p.Asn1318Ser
NM_000489.5:c.3953A>G	NP_000480.3:p.Asn1318Ser
NM_138270.3:c.3839A>G	NP_612114.2:p.Asn1280Ser
NM_138270.4:c.3839A>G	NP_612114.2:p.Asn1280Ser
NM_138270.5:c.3839A>G	NP_612114.2:p.Asn1280Ser
ENST00000373344.9:c.3953A>G	ENSP00000362441.4:p.Asn1318Ser
ENST00000395603.7:c.3839A>G	ENSP00000378967.3:p.Asn1280Ser
ENST00000480283.5:c.*3581A>G	ENSP00000480196.1:n.*3581A>G
ENST00000624166.3:c.3749A>G	ENSP00000485103.1:p.Asn1250Ser
XM_005262153.3:c.3950A>G	XP_005262210.2:p.Asn1317Ser
XM_005262153.5:c.3950A>G	XP_005262210.2:p.Asn1317Ser
XM_005262154.3:c.3866A>G	XP_005262211.2:p.Asn1289Ser
XM_005262154.5:c.3866A>G	XP_005262211.2:p.Asn1289Ser
XM_005262155.3:c.3836A>G	XP_005262212.2:p.Asn1279Ser
XM_005262155.4:c.3836A>G	XP_005262212.2:p.Asn1279Ser
XM_005262156.3:c.3788A>G	XP_005262213.2:p.Asn1263Ser
XM_005262156.4:c.3788A>G	XP_005262213.2:p.Asn1263Ser
XM_005262157.3:c.3749A>G	XP_005262214.2:p.Asn1250Ser
XM_005262157.5:c.3749A>G	XP_005262214.2:p.Asn1250Ser
XM_006724666.2:c.3836A>G	XP_006724729.1:p.Asn1279Ser
XM_006724666.4:c.3836A>G	XP_006724729.1:p.Asn1279Ser
XM_006724667.2:c.3674A>G	XP_006724730.1:p.Asn1225Ser
XM_006724667.3:c.3674A>G	XP_006724730.1:p.Asn1225Ser
XM_006724668.2:c.3953A>G	XP_006724731.1:p.Asn1318Ser
XM_006724668.3:c.3953A>G	XP_006724731.1:p.Asn1318Ser
XM_017029601.2:c.3863A>G	XP_016885090.1:p.Asn1288Ser
XM_017029602.1:c.3833A>G	XP_016885091.1:p.Asn1278Ser
XM_017029603.1:c.3785A>G	XP_016885092.1:p.Asn1262Ser
XM_017029604.2:c.3752A>G	XP_016885093.1:p.Asn1251Ser
XM_017029605.1:c.3749A>G	XP_016885094.1:p.Asn1250Ser
XM_017029606.2:c.3722A>G	XP_016885095.1:p.Asn1241Ser
XM_017029607.2:c.3719A>G	XP_016885096.1:p.Asn1240Ser
XM_017029608.2:c.3671A>G	XP_016885097.1:p.Asn1224Ser
XM_017029609.1:c.3635A>G	XP_016885098.1:p.Asn1212Ser
XM_017029610.1:c.3632A>G	XP_016885099.1:p.Asn1211Ser
XM_017029611.1:c.3587A>G	XP_016885100.1:p.Asn1196Ser
XR_001755700.2:n.4178A>G
XR_938400.1:n.4221A>G