Canonical Allele Identifier: CA413700981

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76829749A>G (hg19) ; chrX:g.77574284A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574284A>G , CM000685.2:g.77574284A>G	GRCh38
NC_000023.10:g.76829749A>G , CM000685.1:g.76829749A>G	GRCh37
NC_000023.9:g.76716405A>G	NCBI36
NG_008838.2:g.216938T>C
NG_008838.3:g.216986T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6292T>C MANE Select	ENSP00000362441.4:p.Trp2098Arg
ENST00000675732.1:c.1390T>C	ENSP00000502598.1:p.Trp464Arg
ENST00000373344.9:c.6292T>C	ENSP00000362441.4:p.Trp2098Arg
ENST00000395603.7:c.6178T>C	ENSP00000378967.3:p.Trp2060Arg
ENST00000480283.5:c.*5920T>C	ENSP00000480196.1:n.*5920T>C
ENST00000623316.1:c.776T>C
ENST00000623706.3:n.3362T>C
NM_000489.4:c.6292T>C	NP_000480.3:p.Trp2098Arg
NM_138270.3:c.6178T>C	NP_612114.2:p.Trp2060Arg
XM_005262153.3:c.6289T>C	XP_005262210.2:p.Trp2097Arg
XM_005262154.3:c.6205T>C	XP_005262211.2:p.Trp2069Arg
XM_005262155.3:c.6175T>C	XP_005262212.2:p.Trp2059Arg
XM_005262156.3:c.6127T>C	XP_005262213.2:p.Trp2043Arg
XM_005262157.3:c.6088T>C	XP_005262214.2:p.Trp2030Arg
XM_006724666.2:c.6175T>C	XP_006724729.1:p.Trp2059Arg
XM_006724667.2:c.6013T>C	XP_006724730.1:p.Trp2005Arg
XR_938400.1:n.6634T>C
NM_000489.5:c.6292T>C	NP_000480.3:p.Trp2098Arg
XM_005262153.5:c.6289T>C	XP_005262210.2:p.Trp2097Arg
XM_005262154.5:c.6205T>C	XP_005262211.2:p.Trp2069Arg
XM_005262155.4:c.6175T>C	XP_005262212.2:p.Trp2059Arg
XM_005262156.4:c.6127T>C	XP_005262213.2:p.Trp2043Arg
XM_005262157.5:c.6088T>C	XP_005262214.2:p.Trp2030Arg
XM_006724666.4:c.6175T>C	XP_006724729.1:p.Trp2059Arg
XM_006724667.3:c.6013T>C	XP_006724730.1:p.Trp2005Arg
XM_017029601.2:c.6202T>C	XP_016885090.1:p.Trp2068Arg
XM_017029602.1:c.6172T>C	XP_016885091.1:p.Trp2058Arg
XM_017029603.1:c.6124T>C	XP_016885092.1:p.Trp2042Arg
XM_017029604.2:c.6091T>C	XP_016885093.1:p.Trp2031Arg
XM_017029605.1:c.6088T>C	XP_016885094.1:p.Trp2030Arg
XM_017029606.2:c.6061T>C	XP_016885095.1:p.Trp2021Arg
XM_017029607.2:c.6058T>C	XP_016885096.1:p.Trp2020Arg
XM_017029608.2:c.6010T>C	XP_016885097.1:p.Trp2004Arg
XM_017029609.1:c.5974T>C	XP_016885098.1:p.Trp1992Arg
XM_017029610.1:c.5971T>C	XP_016885099.1:p.Trp1991Arg
XM_017029611.1:c.5926T>C	XP_016885100.1:p.Trp1976Arg
XR_001755700.2:n.6591T>C
NM_138270.4:c.6178T>C	NP_612114.2:p.Trp2060Arg
NM_000489.6:c.6292T>C MANE Select	NP_000480.3:p.Trp2098Arg
NM_138270.5:c.6178T>C	NP_612114.2:p.Trp2060Arg