Canonical Allele Identifier: CA413704643

Gene: ATRX

Linked Data

• gnomAD v4: X-77508533-G-C
• MyVariant Identifiers: chrX:g.76764011G>C (hg19) ; chrX:g.77508533G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7297C>G MANE Select	ENSP00000362441.4:p.Leu2433Val
ENST00000675732.1:c.2395C>G	ENSP00000502598.1:p.Leu799Val
ENST00000373344.9:c.7297C>G	ENSP00000362441.4:p.Leu2433Val
ENST00000395603.7:c.7183C>G	ENSP00000378967.3:p.Leu2395Val
ENST00000480283.5:c.*6925C>G	ENSP00000480196.1:n.*6925C>G
ENST00000623706.3:n.5617C>G
ENST00000624766.1:n.528C>G
NM_000489.4:c.7297C>G	NP_000480.3:p.Leu2433Val
NM_138270.3:c.7183C>G	NP_612114.2:p.Leu2395Val
XM_005262153.3:c.7294C>G	XP_005262210.2:p.Leu2432Val
XM_005262154.3:c.7210C>G	XP_005262211.2:p.Leu2404Val
XM_005262155.3:c.7180C>G	XP_005262212.2:p.Leu2394Val
XM_005262156.3:c.7132C>G	XP_005262213.2:p.Leu2378Val
XM_005262157.3:c.7093C>G	XP_005262214.2:p.Leu2365Val
XM_006724666.2:c.7180C>G	XP_006724729.1:p.Leu2394Val
XM_006724667.2:c.7018C>G	XP_006724730.1:p.Leu2340Val
XR_938400.1:n.8889C>G
NM_000489.5:c.7297C>G	NP_000480.3:p.Leu2433Val
XM_005262153.5:c.7294C>G	XP_005262210.2:p.Leu2432Val
XM_005262154.5:c.7210C>G	XP_005262211.2:p.Leu2404Val
XM_005262155.4:c.7180C>G	XP_005262212.2:p.Leu2394Val
XM_005262156.4:c.7132C>G	XP_005262213.2:p.Leu2378Val
XM_005262157.5:c.7093C>G	XP_005262214.2:p.Leu2365Val
XM_006724666.4:c.7180C>G	XP_006724729.1:p.Leu2394Val
XM_006724667.3:c.7018C>G	XP_006724730.1:p.Leu2340Val
XM_017029601.2:c.7207C>G	XP_016885090.1:p.Leu2403Val
XM_017029602.1:c.7177C>G	XP_016885091.1:p.Leu2393Val
XM_017029603.1:c.7129C>G	XP_016885092.1:p.Leu2377Val
XM_017029604.2:c.7096C>G	XP_016885093.1:p.Leu2366Val
XM_017029605.1:c.7093C>G	XP_016885094.1:p.Leu2365Val
XM_017029606.2:c.7066C>G	XP_016885095.1:p.Leu2356Val
XM_017029607.2:c.7063C>G	XP_016885096.1:p.Leu2355Val
XM_017029608.2:c.7015C>G	XP_016885097.1:p.Leu2339Val
XM_017029609.1:c.6979C>G	XP_016885098.1:p.Leu2327Val
XM_017029610.1:c.6976C>G	XP_016885099.1:p.Leu2326Val
XM_017029611.1:c.6931C>G	XP_016885100.1:p.Leu2311Val
XR_001755700.2:n.7596C>G
NM_138270.4:c.7183C>G	NP_612114.2:p.Leu2395Val
NM_000489.6:c.7297C>G MANE Select	NP_000480.3:p.Leu2433Val
NM_138270.5:c.7183C>G	NP_612114.2:p.Leu2395Val