Canonical Allele Identifier: CA10457398

Gene: ATRX

Linked Data

• dbSNP Id: rs782687209
• ExAC: X:76764002 G / C
• gnomAD v2: X-76764002-G-C
• gnomAD v3: X-77508524-G-C
• gnomAD v4: X-77508524-G-C
• MyVariant Identifiers: chrX:g.76764002G>C (hg19) ; chrX:g.77508524G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508524G>C , CM000685.2:g.77508524G>C	GRCh38
NC_000023.10:g.76764002G>C , CM000685.1:g.76764002G>C	GRCh37
NC_000023.9:g.76650658G>C	NCBI36
NG_008838.2:g.282698C>G
NG_008838.3:g.282746C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7306C>G MANE Select	ENSP00000362441.4:p.Leu2436Val
ENST00000675732.1:c.2404C>G	ENSP00000502598.1:p.Leu802Val
ENST00000373344.9:c.7306C>G	ENSP00000362441.4:p.Leu2436Val
ENST00000395603.7:c.7192C>G	ENSP00000378967.3:p.Leu2398Val
ENST00000480283.5:c.*6934C>G	ENSP00000480196.1:n.*6934C>G
ENST00000623706.3:n.5626C>G
ENST00000624766.1:n.537C>G
NM_000489.4:c.7306C>G	NP_000480.3:p.Leu2436Val
NM_138270.3:c.7192C>G	NP_612114.2:p.Leu2398Val
XM_005262153.3:c.7303C>G	XP_005262210.2:p.Leu2435Val
XM_005262154.3:c.7219C>G	XP_005262211.2:p.Leu2407Val
XM_005262155.3:c.7189C>G	XP_005262212.2:p.Leu2397Val
XM_005262156.3:c.7141C>G	XP_005262213.2:p.Leu2381Val
XM_005262157.3:c.7102C>G	XP_005262214.2:p.Leu2368Val
XM_006724666.2:c.7189C>G	XP_006724729.1:p.Leu2397Val
XM_006724667.2:c.7027C>G	XP_006724730.1:p.Leu2343Val
XR_938400.1:n.8898C>G
NM_000489.5:c.7306C>G	NP_000480.3:p.Leu2436Val
XM_005262153.5:c.7303C>G	XP_005262210.2:p.Leu2435Val
XM_005262154.5:c.7219C>G	XP_005262211.2:p.Leu2407Val
XM_005262155.4:c.7189C>G	XP_005262212.2:p.Leu2397Val
XM_005262156.4:c.7141C>G	XP_005262213.2:p.Leu2381Val
XM_005262157.5:c.7102C>G	XP_005262214.2:p.Leu2368Val
XM_006724666.4:c.7189C>G	XP_006724729.1:p.Leu2397Val
XM_006724667.3:c.7027C>G	XP_006724730.1:p.Leu2343Val
XM_017029601.2:c.7216C>G	XP_016885090.1:p.Leu2406Val
XM_017029602.1:c.7186C>G	XP_016885091.1:p.Leu2396Val
XM_017029603.1:c.7138C>G	XP_016885092.1:p.Leu2380Val
XM_017029604.2:c.7105C>G	XP_016885093.1:p.Leu2369Val
XM_017029605.1:c.7102C>G	XP_016885094.1:p.Leu2368Val
XM_017029606.2:c.7075C>G	XP_016885095.1:p.Leu2359Val
XM_017029607.2:c.7072C>G	XP_016885096.1:p.Leu2358Val
XM_017029608.2:c.7024C>G	XP_016885097.1:p.Leu2342Val
XM_017029609.1:c.6988C>G	XP_016885098.1:p.Leu2330Val
XM_017029610.1:c.6985C>G	XP_016885099.1:p.Leu2329Val
XM_017029611.1:c.6940C>G	XP_016885100.1:p.Leu2314Val
XR_001755700.2:n.7605C>G
NM_138270.4:c.7192C>G	NP_612114.2:p.Leu2398Val
NM_000489.6:c.7306C>G MANE Select	NP_000480.3:p.Leu2436Val
NM_138270.5:c.7192C>G	NP_612114.2:p.Leu2398Val