Canonical Allele Identifier: CA10458130

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77683151T>C , CM000685.2:g.77683151T>C	GRCh38
NC_000023.10:g.76938643T>C , CM000685.1:g.76938643T>C	GRCh37
NC_000023.9:g.76825299T>C	NCBI36
NG_008838.2:g.108071A>G
NG_008838.3:g.108119A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.2105A>G MANE Select	NP_000480.3:p.Asn702Ser
ENST00000373344.11:c.2105A>G MANE Select	ENSP00000362441.4:p.Asn702Ser
NM_000489.4:c.2105A>G	NP_000480.3:p.Asn702Ser
NM_000489.5:c.2105A>G	NP_000480.3:p.Asn702Ser
NM_138270.3:c.1991A>G	NP_612114.2:p.Asn664Ser
NM_138270.4:c.1991A>G	NP_612114.2:p.Asn664Ser
NM_138270.5:c.1991A>G	NP_612114.2:p.Asn664Ser
ENST00000373344.9:c.2105A>G	ENSP00000362441.4:p.Asn702Ser
ENST00000395603.7:c.1991A>G	ENSP00000378967.3:p.Asn664Ser
ENST00000480283.5:c.*1733A>G	ENSP00000480196.1:n.*1733A>G
ENST00000624032.3:c.2018A>G	ENSP00000485253.1:p.Asn673Ser
ENST00000624166.3:c.1901A>G	ENSP00000485103.1:p.Asn634Ser
XM_005262153.3:c.2102A>G	XP_005262210.2:p.Asn701Ser
XM_005262153.5:c.2102A>G	XP_005262210.2:p.Asn701Ser
XM_005262154.3:c.2018A>G	XP_005262211.2:p.Asn673Ser
XM_005262154.5:c.2018A>G	XP_005262211.2:p.Asn673Ser
XM_005262155.3:c.1988A>G	XP_005262212.2:p.Asn663Ser
XM_005262155.4:c.1988A>G	XP_005262212.2:p.Asn663Ser
XM_005262156.3:c.1940A>G	XP_005262213.2:p.Asn647Ser
XM_005262156.4:c.1940A>G	XP_005262213.2:p.Asn647Ser
XM_005262157.3:c.1901A>G	XP_005262214.2:p.Asn634Ser
XM_005262157.5:c.1901A>G	XP_005262214.2:p.Asn634Ser
XM_006724666.2:c.1988A>G	XP_006724729.1:p.Asn663Ser
XM_006724666.4:c.1988A>G	XP_006724729.1:p.Asn663Ser
XM_006724667.2:c.1826A>G	XP_006724730.1:p.Asn609Ser
XM_006724667.3:c.1826A>G	XP_006724730.1:p.Asn609Ser
XM_006724668.2:c.2105A>G	XP_006724731.1:p.Asn702Ser
XM_006724668.3:c.2105A>G	XP_006724731.1:p.Asn702Ser
XM_017029601.2:c.2015A>G	XP_016885090.1:p.Asn672Ser
XM_017029602.1:c.1985A>G	XP_016885091.1:p.Asn662Ser
XM_017029603.1:c.1937A>G	XP_016885092.1:p.Asn646Ser
XM_017029604.2:c.1904A>G	XP_016885093.1:p.Asn635Ser
XM_017029605.1:c.1901A>G	XP_016885094.1:p.Asn634Ser
XM_017029606.2:c.1874A>G	XP_016885095.1:p.Asn625Ser
XM_017029607.2:c.1871A>G	XP_016885096.1:p.Asn624Ser
XM_017029608.2:c.1823A>G	XP_016885097.1:p.Asn608Ser
XM_017029609.1:c.1787A>G	XP_016885098.1:p.Asn596Ser
XM_017029610.1:c.1784A>G	XP_016885099.1:p.Asn595Ser
XM_017029611.1:c.1739A>G	XP_016885100.1:p.Asn580Ser
XR_001755700.2:n.2330A>G
XR_938400.1:n.2373A>G