Canonical Allele Identifier: CA413700995

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76829752T>G (hg19) ; chrX:g.77574287T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574287T>G , CM000685.2:g.77574287T>G	GRCh38
NC_000023.10:g.76829752T>G , CM000685.1:g.76829752T>G	GRCh37
NC_000023.9:g.76716408T>G	NCBI36
NG_008838.2:g.216935A>C
NG_008838.3:g.216983A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6289A>C MANE Select	ENSP00000362441.4:p.Lys2097Gln
ENST00000675732.1:c.1387A>C	ENSP00000502598.1:p.Lys463Gln
ENST00000373344.9:c.6289A>C	ENSP00000362441.4:p.Lys2097Gln
ENST00000395603.7:c.6175A>C	ENSP00000378967.3:p.Lys2059Gln
ENST00000480283.5:c.*5917A>C	ENSP00000480196.1:n.*5917A>C
ENST00000623316.1:c.773A>C
ENST00000623706.3:n.3359A>C
NM_000489.4:c.6289A>C	NP_000480.3:p.Lys2097Gln
NM_138270.3:c.6175A>C	NP_612114.2:p.Lys2059Gln
XM_005262153.3:c.6286A>C	XP_005262210.2:p.Lys2096Gln
XM_005262154.3:c.6202A>C	XP_005262211.2:p.Lys2068Gln
XM_005262155.3:c.6172A>C	XP_005262212.2:p.Lys2058Gln
XM_005262156.3:c.6124A>C	XP_005262213.2:p.Lys2042Gln
XM_005262157.3:c.6085A>C	XP_005262214.2:p.Lys2029Gln
XM_006724666.2:c.6172A>C	XP_006724729.1:p.Lys2058Gln
XM_006724667.2:c.6010A>C	XP_006724730.1:p.Lys2004Gln
XR_938400.1:n.6631A>C
NM_000489.5:c.6289A>C	NP_000480.3:p.Lys2097Gln
XM_005262153.5:c.6286A>C	XP_005262210.2:p.Lys2096Gln
XM_005262154.5:c.6202A>C	XP_005262211.2:p.Lys2068Gln
XM_005262155.4:c.6172A>C	XP_005262212.2:p.Lys2058Gln
XM_005262156.4:c.6124A>C	XP_005262213.2:p.Lys2042Gln
XM_005262157.5:c.6085A>C	XP_005262214.2:p.Lys2029Gln
XM_006724666.4:c.6172A>C	XP_006724729.1:p.Lys2058Gln
XM_006724667.3:c.6010A>C	XP_006724730.1:p.Lys2004Gln
XM_017029601.2:c.6199A>C	XP_016885090.1:p.Lys2067Gln
XM_017029602.1:c.6169A>C	XP_016885091.1:p.Lys2057Gln
XM_017029603.1:c.6121A>C	XP_016885092.1:p.Lys2041Gln
XM_017029604.2:c.6088A>C	XP_016885093.1:p.Lys2030Gln
XM_017029605.1:c.6085A>C	XP_016885094.1:p.Lys2029Gln
XM_017029606.2:c.6058A>C	XP_016885095.1:p.Lys2020Gln
XM_017029607.2:c.6055A>C	XP_016885096.1:p.Lys2019Gln
XM_017029608.2:c.6007A>C	XP_016885097.1:p.Lys2003Gln
XM_017029609.1:c.5971A>C	XP_016885098.1:p.Lys1991Gln
XM_017029610.1:c.5968A>C	XP_016885099.1:p.Lys1990Gln
XM_017029611.1:c.5923A>C	XP_016885100.1:p.Lys1975Gln
XR_001755700.2:n.6588A>C
NM_138270.4:c.6175A>C	NP_612114.2:p.Lys2059Gln
NM_000489.6:c.6289A>C MANE Select	NP_000480.3:p.Lys2097Gln
NM_138270.5:c.6175A>C	NP_612114.2:p.Lys2059Gln