Canonical Allele Identifier: CA413704630

Gene: ATRX

Linked Data

• dbSNP Id: rs2147650660
• MyVariant Identifiers: chrX:g.76764010A>T (hg19) ; chrX:g.77508532A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508532A>T , CM000685.2:g.77508532A>T	GRCh38
NC_000023.10:g.76764010A>T , CM000685.1:g.76764010A>T	GRCh37
NC_000023.9:g.76650666A>T	NCBI36
NG_008838.2:g.282690T>A
NG_008838.3:g.282738T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7298T>A MANE Select	ENSP00000362441.4:p.Leu2433Gln
ENST00000675732.1:c.2396T>A	ENSP00000502598.1:p.Leu799Gln
ENST00000373344.9:c.7298T>A	ENSP00000362441.4:p.Leu2433Gln
ENST00000395603.7:c.7184T>A	ENSP00000378967.3:p.Leu2395Gln
ENST00000480283.5:c.*6926T>A	ENSP00000480196.1:n.*6926T>A
ENST00000623706.3:n.5618T>A
ENST00000624766.1:n.529T>A
NM_000489.4:c.7298T>A	NP_000480.3:p.Leu2433Gln
NM_138270.3:c.7184T>A	NP_612114.2:p.Leu2395Gln
XM_005262153.3:c.7295T>A	XP_005262210.2:p.Leu2432Gln
XM_005262154.3:c.7211T>A	XP_005262211.2:p.Leu2404Gln
XM_005262155.3:c.7181T>A	XP_005262212.2:p.Leu2394Gln
XM_005262156.3:c.7133T>A	XP_005262213.2:p.Leu2378Gln
XM_005262157.3:c.7094T>A	XP_005262214.2:p.Leu2365Gln
XM_006724666.2:c.7181T>A	XP_006724729.1:p.Leu2394Gln
XM_006724667.2:c.7019T>A	XP_006724730.1:p.Leu2340Gln
XR_938400.1:n.8890T>A
NM_000489.5:c.7298T>A	NP_000480.3:p.Leu2433Gln
XM_005262153.5:c.7295T>A	XP_005262210.2:p.Leu2432Gln
XM_005262154.5:c.7211T>A	XP_005262211.2:p.Leu2404Gln
XM_005262155.4:c.7181T>A	XP_005262212.2:p.Leu2394Gln
XM_005262156.4:c.7133T>A	XP_005262213.2:p.Leu2378Gln
XM_005262157.5:c.7094T>A	XP_005262214.2:p.Leu2365Gln
XM_006724666.4:c.7181T>A	XP_006724729.1:p.Leu2394Gln
XM_006724667.3:c.7019T>A	XP_006724730.1:p.Leu2340Gln
XM_017029601.2:c.7208T>A	XP_016885090.1:p.Leu2403Gln
XM_017029602.1:c.7178T>A	XP_016885091.1:p.Leu2393Gln
XM_017029603.1:c.7130T>A	XP_016885092.1:p.Leu2377Gln
XM_017029604.2:c.7097T>A	XP_016885093.1:p.Leu2366Gln
XM_017029605.1:c.7094T>A	XP_016885094.1:p.Leu2365Gln
XM_017029606.2:c.7067T>A	XP_016885095.1:p.Leu2356Gln
XM_017029607.2:c.7064T>A	XP_016885096.1:p.Leu2355Gln
XM_017029608.2:c.7016T>A	XP_016885097.1:p.Leu2339Gln
XM_017029609.1:c.6980T>A	XP_016885098.1:p.Leu2327Gln
XM_017029610.1:c.6977T>A	XP_016885099.1:p.Leu2326Gln
XM_017029611.1:c.6932T>A	XP_016885100.1:p.Leu2311Gln
XR_001755700.2:n.7597T>A
NM_138270.4:c.7184T>A	NP_612114.2:p.Leu2395Gln
NM_000489.6:c.7298T>A MANE Select	NP_000480.3:p.Leu2433Gln
NM_138270.5:c.7184T>A	NP_612114.2:p.Leu2395Gln