Canonical Allele Identifier: CA413703925

Gene: ATRX

Linked Data

• gnomAD v4: X-77508433-C-T
• MyVariant Identifiers: chrX:g.76763911C>T (hg19) ; chrX:g.77508433C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508433C>T , CM000685.2:g.77508433C>T	GRCh38
NC_000023.10:g.76763911C>T , CM000685.1:g.76763911C>T	GRCh37
NC_000023.9:g.76650567C>T	NCBI36
NG_008838.2:g.282789G>A
NG_008838.3:g.282837G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7397G>A MANE Select	ENSP00000362441.4:p.Gly2466Asp
ENST00000675732.1:c.2495G>A	ENSP00000502598.1:p.Gly832Asp
ENST00000373344.9:c.7397G>A	ENSP00000362441.4:p.Gly2466Asp
ENST00000395603.7:c.7283G>A	ENSP00000378967.3:p.Gly2428Asp
ENST00000480283.5:c.*7025G>A	ENSP00000480196.1:n.*7025G>A
ENST00000623706.3:n.5717G>A
NM_000489.4:c.7397G>A	NP_000480.3:p.Gly2466Asp
NM_138270.3:c.7283G>A	NP_612114.2:p.Gly2428Asp
XM_005262153.3:c.7394G>A	XP_005262210.2:p.Gly2465Asp
XM_005262154.3:c.7310G>A	XP_005262211.2:p.Gly2437Asp
XM_005262155.3:c.7280G>A	XP_005262212.2:p.Gly2427Asp
XM_005262156.3:c.7232G>A	XP_005262213.2:p.Gly2411Asp
XM_005262157.3:c.7193G>A	XP_005262214.2:p.Gly2398Asp
XM_006724666.2:c.7280G>A	XP_006724729.1:p.Gly2427Asp
XM_006724667.2:c.7118G>A	XP_006724730.1:p.Gly2373Asp
XR_938400.1:n.8989G>A
NM_000489.5:c.7397G>A	NP_000480.3:p.Gly2466Asp
XM_005262153.5:c.7394G>A	XP_005262210.2:p.Gly2465Asp
XM_005262154.5:c.7310G>A	XP_005262211.2:p.Gly2437Asp
XM_005262155.4:c.7280G>A	XP_005262212.2:p.Gly2427Asp
XM_005262156.4:c.7232G>A	XP_005262213.2:p.Gly2411Asp
XM_005262157.5:c.7193G>A	XP_005262214.2:p.Gly2398Asp
XM_006724666.4:c.7280G>A	XP_006724729.1:p.Gly2427Asp
XM_006724667.3:c.7118G>A	XP_006724730.1:p.Gly2373Asp
XM_017029601.2:c.7307G>A	XP_016885090.1:p.Gly2436Asp
XM_017029602.1:c.7277G>A	XP_016885091.1:p.Gly2426Asp
XM_017029603.1:c.7229G>A	XP_016885092.1:p.Gly2410Asp
XM_017029604.2:c.7196G>A	XP_016885093.1:p.Gly2399Asp
XM_017029605.1:c.7193G>A	XP_016885094.1:p.Gly2398Asp
XM_017029606.2:c.7166G>A	XP_016885095.1:p.Gly2389Asp
XM_017029607.2:c.7163G>A	XP_016885096.1:p.Gly2388Asp
XM_017029608.2:c.7115G>A	XP_016885097.1:p.Gly2372Asp
XM_017029609.1:c.7079G>A	XP_016885098.1:p.Gly2360Asp
XM_017029610.1:c.7076G>A	XP_016885099.1:p.Gly2359Asp
XM_017029611.1:c.7031G>A	XP_016885100.1:p.Gly2344Asp
XR_001755700.2:n.7696G>A
NM_138270.4:c.7283G>A	NP_612114.2:p.Gly2428Asp
NM_000489.6:c.7397G>A MANE Select	NP_000480.3:p.Gly2466Asp
NM_138270.5:c.7283G>A	NP_612114.2:p.Gly2428Asp