Canonical Allele Identifier: CA10458030

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77682441C>G , CM000685.2:g.77682441C>G	GRCh38
NC_000023.10:g.76937933C>G , CM000685.1:g.76937933C>G	GRCh37
NC_000023.9:g.76824589C>G	NCBI36
NG_008838.2:g.108781G>C
NG_008838.3:g.108829G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.2815G>C MANE Select	NP_000480.3:p.Val939Leu
ENST00000373344.11:c.2815G>C MANE Select	ENSP00000362441.4:p.Val939Leu
NM_000489.4:c.2815G>C	NP_000480.3:p.Val939Leu
NM_000489.5:c.2815G>C	NP_000480.3:p.Val939Leu
NM_138270.3:c.2701G>C	NP_612114.2:p.Val901Leu
NM_138270.4:c.2701G>C	NP_612114.2:p.Val901Leu
NM_138270.5:c.2701G>C	NP_612114.2:p.Val901Leu
ENST00000373344.9:c.2815G>C	ENSP00000362441.4:p.Val939Leu
ENST00000395603.7:c.2701G>C	ENSP00000378967.3:p.Val901Leu
ENST00000480283.5:c.*2443G>C	ENSP00000480196.1:n.*2443G>C
ENST00000624032.3:c.2728G>C	ENSP00000485253.1:p.Val910Leu
ENST00000624166.3:c.2611G>C	ENSP00000485103.1:p.Val871Leu
XM_005262153.3:c.2812G>C	XP_005262210.2:p.Val938Leu
XM_005262153.5:c.2812G>C	XP_005262210.2:p.Val938Leu
XM_005262154.3:c.2728G>C	XP_005262211.2:p.Val910Leu
XM_005262154.5:c.2728G>C	XP_005262211.2:p.Val910Leu
XM_005262155.3:c.2698G>C	XP_005262212.2:p.Val900Leu
XM_005262155.4:c.2698G>C	XP_005262212.2:p.Val900Leu
XM_005262156.3:c.2650G>C	XP_005262213.2:p.Val884Leu
XM_005262156.4:c.2650G>C	XP_005262213.2:p.Val884Leu
XM_005262157.3:c.2611G>C	XP_005262214.2:p.Val871Leu
XM_005262157.5:c.2611G>C	XP_005262214.2:p.Val871Leu
XM_006724666.2:c.2698G>C	XP_006724729.1:p.Val900Leu
XM_006724666.4:c.2698G>C	XP_006724729.1:p.Val900Leu
XM_006724667.2:c.2536G>C	XP_006724730.1:p.Val846Leu
XM_006724667.3:c.2536G>C	XP_006724730.1:p.Val846Leu
XM_006724668.2:c.2815G>C	XP_006724731.1:p.Val939Leu
XM_006724668.3:c.2815G>C	XP_006724731.1:p.Val939Leu
XM_017029601.2:c.2725G>C	XP_016885090.1:p.Val909Leu
XM_017029602.1:c.2695G>C	XP_016885091.1:p.Val899Leu
XM_017029603.1:c.2647G>C	XP_016885092.1:p.Val883Leu
XM_017029604.2:c.2614G>C	XP_016885093.1:p.Val872Leu
XM_017029605.1:c.2611G>C	XP_016885094.1:p.Val871Leu
XM_017029606.2:c.2584G>C	XP_016885095.1:p.Val862Leu
XM_017029607.2:c.2581G>C	XP_016885096.1:p.Val861Leu
XM_017029608.2:c.2533G>C	XP_016885097.1:p.Val845Leu
XM_017029609.1:c.2497G>C	XP_016885098.1:p.Val833Leu
XM_017029610.1:c.2494G>C	XP_016885099.1:p.Val832Leu
XM_017029611.1:c.2449G>C	XP_016885100.1:p.Val817Leu
XR_001755700.2:n.3040G>C
XR_938400.1:n.3083G>C