Canonical Allele Identifier: CA413703916

Gene: ATRX

Linked Data

• dbSNP Id: rs2062758256
• MyVariant Identifiers: chrX:g.76763911C>G (hg19) ; chrX:g.77508433C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7397G>C MANE Select	ENSP00000362441.4:p.Gly2466Ala
ENST00000675732.1:c.2495G>C	ENSP00000502598.1:p.Gly832Ala
ENST00000373344.9:c.7397G>C	ENSP00000362441.4:p.Gly2466Ala
ENST00000395603.7:c.7283G>C	ENSP00000378967.3:p.Gly2428Ala
ENST00000480283.5:c.*7025G>C	ENSP00000480196.1:n.*7025G>C
ENST00000623706.3:n.5717G>C
NM_000489.4:c.7397G>C	NP_000480.3:p.Gly2466Ala
NM_138270.3:c.7283G>C	NP_612114.2:p.Gly2428Ala
XM_005262153.3:c.7394G>C	XP_005262210.2:p.Gly2465Ala
XM_005262154.3:c.7310G>C	XP_005262211.2:p.Gly2437Ala
XM_005262155.3:c.7280G>C	XP_005262212.2:p.Gly2427Ala
XM_005262156.3:c.7232G>C	XP_005262213.2:p.Gly2411Ala
XM_005262157.3:c.7193G>C	XP_005262214.2:p.Gly2398Ala
XM_006724666.2:c.7280G>C	XP_006724729.1:p.Gly2427Ala
XM_006724667.2:c.7118G>C	XP_006724730.1:p.Gly2373Ala
XR_938400.1:n.8989G>C
NM_000489.5:c.7397G>C	NP_000480.3:p.Gly2466Ala
XM_005262153.5:c.7394G>C	XP_005262210.2:p.Gly2465Ala
XM_005262154.5:c.7310G>C	XP_005262211.2:p.Gly2437Ala
XM_005262155.4:c.7280G>C	XP_005262212.2:p.Gly2427Ala
XM_005262156.4:c.7232G>C	XP_005262213.2:p.Gly2411Ala
XM_005262157.5:c.7193G>C	XP_005262214.2:p.Gly2398Ala
XM_006724666.4:c.7280G>C	XP_006724729.1:p.Gly2427Ala
XM_006724667.3:c.7118G>C	XP_006724730.1:p.Gly2373Ala
XM_017029601.2:c.7307G>C	XP_016885090.1:p.Gly2436Ala
XM_017029602.1:c.7277G>C	XP_016885091.1:p.Gly2426Ala
XM_017029603.1:c.7229G>C	XP_016885092.1:p.Gly2410Ala
XM_017029604.2:c.7196G>C	XP_016885093.1:p.Gly2399Ala
XM_017029605.1:c.7193G>C	XP_016885094.1:p.Gly2398Ala
XM_017029606.2:c.7166G>C	XP_016885095.1:p.Gly2389Ala
XM_017029607.2:c.7163G>C	XP_016885096.1:p.Gly2388Ala
XM_017029608.2:c.7115G>C	XP_016885097.1:p.Gly2372Ala
XM_017029609.1:c.7079G>C	XP_016885098.1:p.Gly2360Ala
XM_017029610.1:c.7076G>C	XP_016885099.1:p.Gly2359Ala
XM_017029611.1:c.7031G>C	XP_016885100.1:p.Gly2344Ala
XR_001755700.2:n.7696G>C
NM_138270.4:c.7283G>C	NP_612114.2:p.Gly2428Ala
NM_000489.6:c.7397G>C MANE Select	NP_000480.3:p.Gly2466Ala
NM_138270.5:c.7283G>C	NP_612114.2:p.Gly2428Ala