Canonical Allele Identifier: CA413704640

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76764011G>T (hg19) ; chrX:g.77508533G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508533G>T , CM000685.2:g.77508533G>T	GRCh38
NC_000023.10:g.76764011G>T , CM000685.1:g.76764011G>T	GRCh37
NC_000023.9:g.76650667G>T	NCBI36
NG_008838.2:g.282689C>A
NG_008838.3:g.282737C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7297C>A MANE Select	ENSP00000362441.4:p.Leu2433Met
ENST00000675732.1:c.2395C>A	ENSP00000502598.1:p.Leu799Met
ENST00000373344.9:c.7297C>A	ENSP00000362441.4:p.Leu2433Met
ENST00000395603.7:c.7183C>A	ENSP00000378967.3:p.Leu2395Met
ENST00000480283.5:c.*6925C>A	ENSP00000480196.1:n.*6925C>A
ENST00000623706.3:n.5617C>A
ENST00000624766.1:n.528C>A
NM_000489.4:c.7297C>A	NP_000480.3:p.Leu2433Met
NM_138270.3:c.7183C>A	NP_612114.2:p.Leu2395Met
XM_005262153.3:c.7294C>A	XP_005262210.2:p.Leu2432Met
XM_005262154.3:c.7210C>A	XP_005262211.2:p.Leu2404Met
XM_005262155.3:c.7180C>A	XP_005262212.2:p.Leu2394Met
XM_005262156.3:c.7132C>A	XP_005262213.2:p.Leu2378Met
XM_005262157.3:c.7093C>A	XP_005262214.2:p.Leu2365Met
XM_006724666.2:c.7180C>A	XP_006724729.1:p.Leu2394Met
XM_006724667.2:c.7018C>A	XP_006724730.1:p.Leu2340Met
XR_938400.1:n.8889C>A
NM_000489.5:c.7297C>A	NP_000480.3:p.Leu2433Met
XM_005262153.5:c.7294C>A	XP_005262210.2:p.Leu2432Met
XM_005262154.5:c.7210C>A	XP_005262211.2:p.Leu2404Met
XM_005262155.4:c.7180C>A	XP_005262212.2:p.Leu2394Met
XM_005262156.4:c.7132C>A	XP_005262213.2:p.Leu2378Met
XM_005262157.5:c.7093C>A	XP_005262214.2:p.Leu2365Met
XM_006724666.4:c.7180C>A	XP_006724729.1:p.Leu2394Met
XM_006724667.3:c.7018C>A	XP_006724730.1:p.Leu2340Met
XM_017029601.2:c.7207C>A	XP_016885090.1:p.Leu2403Met
XM_017029602.1:c.7177C>A	XP_016885091.1:p.Leu2393Met
XM_017029603.1:c.7129C>A	XP_016885092.1:p.Leu2377Met
XM_017029604.2:c.7096C>A	XP_016885093.1:p.Leu2366Met
XM_017029605.1:c.7093C>A	XP_016885094.1:p.Leu2365Met
XM_017029606.2:c.7066C>A	XP_016885095.1:p.Leu2356Met
XM_017029607.2:c.7063C>A	XP_016885096.1:p.Leu2355Met
XM_017029608.2:c.7015C>A	XP_016885097.1:p.Leu2339Met
XM_017029609.1:c.6979C>A	XP_016885098.1:p.Leu2327Met
XM_017029610.1:c.6976C>A	XP_016885099.1:p.Leu2326Met
XM_017029611.1:c.6931C>A	XP_016885100.1:p.Leu2311Met
XR_001755700.2:n.7596C>A
NM_138270.4:c.7183C>A	NP_612114.2:p.Leu2395Met
NM_000489.6:c.7297C>A MANE Select	NP_000480.3:p.Leu2433Met
NM_138270.5:c.7183C>A	NP_612114.2:p.Leu2395Met