Canonical Allele Identifier: CA10458018

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77682349T>G , CM000685.2:g.77682349T>G	GRCh38
NC_000023.10:g.76937841T>G , CM000685.1:g.76937841T>G	GRCh37
NC_000023.9:g.76824497T>G	NCBI36
NG_008838.2:g.108873A>C
NG_008838.3:g.108921A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.2907A>C MANE Select	NP_000480.3:p.Leu969=
ENST00000373344.11:c.2907A>C MANE Select	ENSP00000362441.4:p.Leu969=
NM_000489.4:c.2907A>C	NP_000480.3:p.Leu969=
NM_000489.5:c.2907A>C	NP_000480.3:p.Leu969=
NM_138270.3:c.2793A>C	NP_612114.2:p.Leu931=
NM_138270.4:c.2793A>C	NP_612114.2:p.Leu931=
NM_138270.5:c.2793A>C	NP_612114.2:p.Leu931=
ENST00000373344.9:c.2907A>C	ENSP00000362441.4:p.Leu969=
ENST00000395603.7:c.2793A>C	ENSP00000378967.3:p.Leu931=
ENST00000480283.5:c.*2535A>C	ENSP00000480196.1:n.*2535A>C
ENST00000624032.3:c.2820A>C	ENSP00000485253.1:p.Leu940=
ENST00000624166.3:c.2703A>C	ENSP00000485103.1:p.Leu901=
XM_005262153.3:c.2904A>C	XP_005262210.2:p.Leu968=
XM_005262153.5:c.2904A>C	XP_005262210.2:p.Leu968=
XM_005262154.3:c.2820A>C	XP_005262211.2:p.Leu940=
XM_005262154.5:c.2820A>C	XP_005262211.2:p.Leu940=
XM_005262155.3:c.2790A>C	XP_005262212.2:p.Leu930=
XM_005262155.4:c.2790A>C	XP_005262212.2:p.Leu930=
XM_005262156.3:c.2742A>C	XP_005262213.2:p.Leu914=
XM_005262156.4:c.2742A>C	XP_005262213.2:p.Leu914=
XM_005262157.3:c.2703A>C	XP_005262214.2:p.Leu901=
XM_005262157.5:c.2703A>C	XP_005262214.2:p.Leu901=
XM_006724666.2:c.2790A>C	XP_006724729.1:p.Leu930=
XM_006724666.4:c.2790A>C	XP_006724729.1:p.Leu930=
XM_006724667.2:c.2628A>C	XP_006724730.1:p.Leu876=
XM_006724667.3:c.2628A>C	XP_006724730.1:p.Leu876=
XM_006724668.2:c.2907A>C	XP_006724731.1:p.Leu969=
XM_006724668.3:c.2907A>C	XP_006724731.1:p.Leu969=
XM_017029601.2:c.2817A>C	XP_016885090.1:p.Leu939=
XM_017029602.1:c.2787A>C	XP_016885091.1:p.Leu929=
XM_017029603.1:c.2739A>C	XP_016885092.1:p.Leu913=
XM_017029604.2:c.2706A>C	XP_016885093.1:p.Leu902=
XM_017029605.1:c.2703A>C	XP_016885094.1:p.Leu901=
XM_017029606.2:c.2676A>C	XP_016885095.1:p.Leu892=
XM_017029607.2:c.2673A>C	XP_016885096.1:p.Leu891=
XM_017029608.2:c.2625A>C	XP_016885097.1:p.Leu875=
XM_017029609.1:c.2589A>C	XP_016885098.1:p.Leu863=
XM_017029610.1:c.2586A>C	XP_016885099.1:p.Leu862=
XM_017029611.1:c.2541A>C	XP_016885100.1:p.Leu847=
XR_001755700.2:n.3132A>C
XR_938400.1:n.3175A>C