Canonical Allele Identifier: CA413701157

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76829783T>G (hg19) ; chrX:g.77574318T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574318T>G , CM000685.2:g.77574318T>G	GRCh38
NC_000023.10:g.76829783T>G , CM000685.1:g.76829783T>G	GRCh37
NC_000023.9:g.76716439T>G	NCBI36
NG_008838.2:g.216904A>C
NG_008838.3:g.216952A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6258A>C MANE Select	ENSP00000362441.4:p.Leu2086Phe
ENST00000636152.1:n.93A>C
ENST00000675732.1:c.1356A>C	ENSP00000502598.1:p.Leu452Phe
ENST00000373344.9:c.6258A>C	ENSP00000362441.4:p.Leu2086Phe
ENST00000395603.7:c.6144A>C	ENSP00000378967.3:p.Leu2048Phe
ENST00000480283.5:c.*5886A>C	ENSP00000480196.1:n.*5886A>C
ENST00000623316.1:c.742A>C
ENST00000623706.3:n.3328A>C
NM_000489.4:c.6258A>C	NP_000480.3:p.Leu2086Phe
NM_138270.3:c.6144A>C	NP_612114.2:p.Leu2048Phe
XM_005262153.3:c.6255A>C	XP_005262210.2:p.Leu2085Phe
XM_005262154.3:c.6171A>C	XP_005262211.2:p.Leu2057Phe
XM_005262155.3:c.6141A>C	XP_005262212.2:p.Leu2047Phe
XM_005262156.3:c.6093A>C	XP_005262213.2:p.Leu2031Phe
XM_005262157.3:c.6054A>C	XP_005262214.2:p.Leu2018Phe
XM_006724666.2:c.6141A>C	XP_006724729.1:p.Leu2047Phe
XM_006724667.2:c.5979A>C	XP_006724730.1:p.Leu1993Phe
XR_938400.1:n.6600A>C
NM_000489.5:c.6258A>C	NP_000480.3:p.Leu2086Phe
XM_005262153.5:c.6255A>C	XP_005262210.2:p.Leu2085Phe
XM_005262154.5:c.6171A>C	XP_005262211.2:p.Leu2057Phe
XM_005262155.4:c.6141A>C	XP_005262212.2:p.Leu2047Phe
XM_005262156.4:c.6093A>C	XP_005262213.2:p.Leu2031Phe
XM_005262157.5:c.6054A>C	XP_005262214.2:p.Leu2018Phe
XM_006724666.4:c.6141A>C	XP_006724729.1:p.Leu2047Phe
XM_006724667.3:c.5979A>C	XP_006724730.1:p.Leu1993Phe
XM_017029601.2:c.6168A>C	XP_016885090.1:p.Leu2056Phe
XM_017029602.1:c.6138A>C	XP_016885091.1:p.Leu2046Phe
XM_017029603.1:c.6090A>C	XP_016885092.1:p.Leu2030Phe
XM_017029604.2:c.6057A>C	XP_016885093.1:p.Leu2019Phe
XM_017029605.1:c.6054A>C	XP_016885094.1:p.Leu2018Phe
XM_017029606.2:c.6027A>C	XP_016885095.1:p.Leu2009Phe
XM_017029607.2:c.6024A>C	XP_016885096.1:p.Leu2008Phe
XM_017029608.2:c.5976A>C	XP_016885097.1:p.Leu1992Phe
XM_017029609.1:c.5940A>C	XP_016885098.1:p.Leu1980Phe
XM_017029610.1:c.5937A>C	XP_016885099.1:p.Leu1979Phe
XM_017029611.1:c.5892A>C	XP_016885100.1:p.Leu1964Phe
XR_001755700.2:n.6557A>C
NM_138270.4:c.6144A>C	NP_612114.2:p.Leu2048Phe
NM_000489.6:c.6258A>C MANE Select	NP_000480.3:p.Leu2086Phe
NM_138270.5:c.6144A>C	NP_612114.2:p.Leu2048Phe