Canonical Allele Identifier: CA413701227

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76829796T>G (hg19) ; chrX:g.77574331T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574331T>G , CM000685.2:g.77574331T>G	GRCh38
NC_000023.10:g.76829796T>G , CM000685.1:g.76829796T>G	GRCh37
NC_000023.9:g.76716452T>G	NCBI36
NG_008838.2:g.216891A>C
NG_008838.3:g.216939A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6245A>C MANE Select	ENSP00000362441.4:p.Asp2082Ala
ENST00000636152.1:n.80A>C
ENST00000675732.1:c.1343A>C	ENSP00000502598.1:p.Asp448Ala
ENST00000373344.9:c.6245A>C	ENSP00000362441.4:p.Asp2082Ala
ENST00000395603.7:c.6131A>C	ENSP00000378967.3:p.Asp2044Ala
ENST00000480283.5:c.*5873A>C	ENSP00000480196.1:n.*5873A>C
ENST00000623316.1:c.729A>C
ENST00000623706.3:n.3315A>C
NM_000489.4:c.6245A>C	NP_000480.3:p.Asp2082Ala
NM_138270.3:c.6131A>C	NP_612114.2:p.Asp2044Ala
XM_005262153.3:c.6242A>C	XP_005262210.2:p.Asp2081Ala
XM_005262154.3:c.6158A>C	XP_005262211.2:p.Asp2053Ala
XM_005262155.3:c.6128A>C	XP_005262212.2:p.Asp2043Ala
XM_005262156.3:c.6080A>C	XP_005262213.2:p.Asp2027Ala
XM_005262157.3:c.6041A>C	XP_005262214.2:p.Asp2014Ala
XM_006724666.2:c.6128A>C	XP_006724729.1:p.Asp2043Ala
XM_006724667.2:c.5966A>C	XP_006724730.1:p.Asp1989Ala
XR_938400.1:n.6587A>C
NM_000489.5:c.6245A>C	NP_000480.3:p.Asp2082Ala
XM_005262153.5:c.6242A>C	XP_005262210.2:p.Asp2081Ala
XM_005262154.5:c.6158A>C	XP_005262211.2:p.Asp2053Ala
XM_005262155.4:c.6128A>C	XP_005262212.2:p.Asp2043Ala
XM_005262156.4:c.6080A>C	XP_005262213.2:p.Asp2027Ala
XM_005262157.5:c.6041A>C	XP_005262214.2:p.Asp2014Ala
XM_006724666.4:c.6128A>C	XP_006724729.1:p.Asp2043Ala
XM_006724667.3:c.5966A>C	XP_006724730.1:p.Asp1989Ala
XM_017029601.2:c.6155A>C	XP_016885090.1:p.Asp2052Ala
XM_017029602.1:c.6125A>C	XP_016885091.1:p.Asp2042Ala
XM_017029603.1:c.6077A>C	XP_016885092.1:p.Asp2026Ala
XM_017029604.2:c.6044A>C	XP_016885093.1:p.Asp2015Ala
XM_017029605.1:c.6041A>C	XP_016885094.1:p.Asp2014Ala
XM_017029606.2:c.6014A>C	XP_016885095.1:p.Asp2005Ala
XM_017029607.2:c.6011A>C	XP_016885096.1:p.Asp2004Ala
XM_017029608.2:c.5963A>C	XP_016885097.1:p.Asp1988Ala
XM_017029609.1:c.5927A>C	XP_016885098.1:p.Asp1976Ala
XM_017029610.1:c.5924A>C	XP_016885099.1:p.Asp1975Ala
XM_017029611.1:c.5879A>C	XP_016885100.1:p.Asp1960Ala
XR_001755700.2:n.6544A>C
NM_138270.4:c.6131A>C	NP_612114.2:p.Asp2044Ala
NM_000489.6:c.6245A>C MANE Select	NP_000480.3:p.Asp2082Ala
NM_138270.5:c.6131A>C	NP_612114.2:p.Asp2044Ala