Canonical Allele Identifier: CA10458143

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77683308C>G , CM000685.2:g.77683308C>G	GRCh38
NC_000023.10:g.76938800C>G , CM000685.1:g.76938800C>G	GRCh37
NC_000023.9:g.76825456C>G	NCBI36
NG_008838.2:g.107914G>C
NG_008838.3:g.107962G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.1948G>C MANE Select	NP_000480.3:p.Glu650Gln
ENST00000373344.11:c.1948G>C MANE Select	ENSP00000362441.4:p.Glu650Gln
NM_000489.4:c.1948G>C	NP_000480.3:p.Glu650Gln
NM_000489.5:c.1948G>C	NP_000480.3:p.Glu650Gln
NM_138270.3:c.1834G>C	NP_612114.2:p.Glu612Gln
NM_138270.4:c.1834G>C	NP_612114.2:p.Glu612Gln
NM_138270.5:c.1834G>C	NP_612114.2:p.Glu612Gln
ENST00000373344.9:c.1948G>C	ENSP00000362441.4:p.Glu650Gln
ENST00000395603.7:c.1834G>C	ENSP00000378967.3:p.Glu612Gln
ENST00000480283.5:c.*1576G>C	ENSP00000480196.1:n.*1576G>C
ENST00000624032.3:c.1861G>C	ENSP00000485253.1:p.Glu621Gln
ENST00000624166.3:c.1744G>C	ENSP00000485103.1:p.Glu582Gln
XM_005262153.3:c.1945G>C	XP_005262210.2:p.Glu649Gln
XM_005262153.5:c.1945G>C	XP_005262210.2:p.Glu649Gln
XM_005262154.3:c.1861G>C	XP_005262211.2:p.Glu621Gln
XM_005262154.5:c.1861G>C	XP_005262211.2:p.Glu621Gln
XM_005262155.3:c.1831G>C	XP_005262212.2:p.Glu611Gln
XM_005262155.4:c.1831G>C	XP_005262212.2:p.Glu611Gln
XM_005262156.3:c.1783G>C	XP_005262213.2:p.Glu595Gln
XM_005262156.4:c.1783G>C	XP_005262213.2:p.Glu595Gln
XM_005262157.3:c.1744G>C	XP_005262214.2:p.Glu582Gln
XM_005262157.5:c.1744G>C	XP_005262214.2:p.Glu582Gln
XM_006724666.2:c.1831G>C	XP_006724729.1:p.Glu611Gln
XM_006724666.4:c.1831G>C	XP_006724729.1:p.Glu611Gln
XM_006724667.2:c.1669G>C	XP_006724730.1:p.Glu557Gln
XM_006724667.3:c.1669G>C	XP_006724730.1:p.Glu557Gln
XM_006724668.2:c.1948G>C	XP_006724731.1:p.Glu650Gln
XM_006724668.3:c.1948G>C	XP_006724731.1:p.Glu650Gln
XM_017029601.2:c.1858G>C	XP_016885090.1:p.Glu620Gln
XM_017029602.1:c.1828G>C	XP_016885091.1:p.Glu610Gln
XM_017029603.1:c.1780G>C	XP_016885092.1:p.Glu594Gln
XM_017029604.2:c.1747G>C	XP_016885093.1:p.Glu583Gln
XM_017029605.1:c.1744G>C	XP_016885094.1:p.Glu582Gln
XM_017029606.2:c.1717G>C	XP_016885095.1:p.Glu573Gln
XM_017029607.2:c.1714G>C	XP_016885096.1:p.Glu572Gln
XM_017029608.2:c.1666G>C	XP_016885097.1:p.Glu556Gln
XM_017029609.1:c.1630G>C	XP_016885098.1:p.Glu544Gln
XM_017029610.1:c.1627G>C	XP_016885099.1:p.Glu543Gln
XM_017029611.1:c.1582G>C	XP_016885100.1:p.Glu528Gln
XR_001755700.2:n.2173G>C
XR_938400.1:n.2216G>C