Canonical Allele Identifier: CA413701247

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76829803T>G (hg19) ; chrX:g.77574338T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574338T>G , CM000685.2:g.77574338T>G	GRCh38
NC_000023.10:g.76829803T>G , CM000685.1:g.76829803T>G	GRCh37
NC_000023.9:g.76716459T>G	NCBI36
NG_008838.2:g.216884A>C
NG_008838.3:g.216932A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6238A>C MANE Select	ENSP00000362441.4:p.Asn2080His
ENST00000636152.1:n.73A>C
ENST00000675732.1:c.1336A>C	ENSP00000502598.1:p.Asn446His
ENST00000373344.9:c.6238A>C	ENSP00000362441.4:p.Asn2080His
ENST00000395603.7:c.6124A>C	ENSP00000378967.3:p.Asn2042His
ENST00000480283.5:c.*5866A>C	ENSP00000480196.1:n.*5866A>C
ENST00000623316.1:c.722A>C
ENST00000623706.3:n.3308A>C
NM_000489.4:c.6238A>C	NP_000480.3:p.Asn2080His
NM_138270.3:c.6124A>C	NP_612114.2:p.Asn2042His
XM_005262153.3:c.6235A>C	XP_005262210.2:p.Asn2079His
XM_005262154.3:c.6151A>C	XP_005262211.2:p.Asn2051His
XM_005262155.3:c.6121A>C	XP_005262212.2:p.Asn2041His
XM_005262156.3:c.6073A>C	XP_005262213.2:p.Asn2025His
XM_005262157.3:c.6034A>C	XP_005262214.2:p.Asn2012His
XM_006724666.2:c.6121A>C	XP_006724729.1:p.Asn2041His
XM_006724667.2:c.5959A>C	XP_006724730.1:p.Asn1987His
XR_938400.1:n.6580A>C
NM_000489.5:c.6238A>C	NP_000480.3:p.Asn2080His
XM_005262153.5:c.6235A>C	XP_005262210.2:p.Asn2079His
XM_005262154.5:c.6151A>C	XP_005262211.2:p.Asn2051His
XM_005262155.4:c.6121A>C	XP_005262212.2:p.Asn2041His
XM_005262156.4:c.6073A>C	XP_005262213.2:p.Asn2025His
XM_005262157.5:c.6034A>C	XP_005262214.2:p.Asn2012His
XM_006724666.4:c.6121A>C	XP_006724729.1:p.Asn2041His
XM_006724667.3:c.5959A>C	XP_006724730.1:p.Asn1987His
XM_017029601.2:c.6148A>C	XP_016885090.1:p.Asn2050His
XM_017029602.1:c.6118A>C	XP_016885091.1:p.Asn2040His
XM_017029603.1:c.6070A>C	XP_016885092.1:p.Asn2024His
XM_017029604.2:c.6037A>C	XP_016885093.1:p.Asn2013His
XM_017029605.1:c.6034A>C	XP_016885094.1:p.Asn2012His
XM_017029606.2:c.6007A>C	XP_016885095.1:p.Asn2003His
XM_017029607.2:c.6004A>C	XP_016885096.1:p.Asn2002His
XM_017029608.2:c.5956A>C	XP_016885097.1:p.Asn1986His
XM_017029609.1:c.5920A>C	XP_016885098.1:p.Asn1974His
XM_017029610.1:c.5917A>C	XP_016885099.1:p.Asn1973His
XM_017029611.1:c.5872A>C	XP_016885100.1:p.Asn1958His
XR_001755700.2:n.6537A>C
NM_138270.4:c.6124A>C	NP_612114.2:p.Asn2042His
NM_000489.6:c.6238A>C MANE Select	NP_000480.3:p.Asn2080His
NM_138270.5:c.6124A>C	NP_612114.2:p.Asn2042His