Canonical Allele Identifier: CA413701220

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76829795G>T (hg19) ; chrX:g.77574330G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574330G>T , CM000685.2:g.77574330G>T	GRCh38
NC_000023.10:g.76829795G>T , CM000685.1:g.76829795G>T	GRCh37
NC_000023.9:g.76716451G>T	NCBI36
NG_008838.2:g.216892C>A
NG_008838.3:g.216940C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6246C>A MANE Select	ENSP00000362441.4:p.Asp2082Glu
ENST00000636152.1:n.81C>A
ENST00000675732.1:c.1344C>A	ENSP00000502598.1:p.Asp448Glu
ENST00000373344.9:c.6246C>A	ENSP00000362441.4:p.Asp2082Glu
ENST00000395603.7:c.6132C>A	ENSP00000378967.3:p.Asp2044Glu
ENST00000480283.5:c.*5874C>A	ENSP00000480196.1:n.*5874C>A
ENST00000623316.1:c.730C>A
ENST00000623706.3:n.3316C>A
NM_000489.4:c.6246C>A	NP_000480.3:p.Asp2082Glu
NM_138270.3:c.6132C>A	NP_612114.2:p.Asp2044Glu
XM_005262153.3:c.6243C>A	XP_005262210.2:p.Asp2081Glu
XM_005262154.3:c.6159C>A	XP_005262211.2:p.Asp2053Glu
XM_005262155.3:c.6129C>A	XP_005262212.2:p.Asp2043Glu
XM_005262156.3:c.6081C>A	XP_005262213.2:p.Asp2027Glu
XM_005262157.3:c.6042C>A	XP_005262214.2:p.Asp2014Glu
XM_006724666.2:c.6129C>A	XP_006724729.1:p.Asp2043Glu
XM_006724667.2:c.5967C>A	XP_006724730.1:p.Asp1989Glu
XR_938400.1:n.6588C>A
NM_000489.5:c.6246C>A	NP_000480.3:p.Asp2082Glu
XM_005262153.5:c.6243C>A	XP_005262210.2:p.Asp2081Glu
XM_005262154.5:c.6159C>A	XP_005262211.2:p.Asp2053Glu
XM_005262155.4:c.6129C>A	XP_005262212.2:p.Asp2043Glu
XM_005262156.4:c.6081C>A	XP_005262213.2:p.Asp2027Glu
XM_005262157.5:c.6042C>A	XP_005262214.2:p.Asp2014Glu
XM_006724666.4:c.6129C>A	XP_006724729.1:p.Asp2043Glu
XM_006724667.3:c.5967C>A	XP_006724730.1:p.Asp1989Glu
XM_017029601.2:c.6156C>A	XP_016885090.1:p.Asp2052Glu
XM_017029602.1:c.6126C>A	XP_016885091.1:p.Asp2042Glu
XM_017029603.1:c.6078C>A	XP_016885092.1:p.Asp2026Glu
XM_017029604.2:c.6045C>A	XP_016885093.1:p.Asp2015Glu
XM_017029605.1:c.6042C>A	XP_016885094.1:p.Asp2014Glu
XM_017029606.2:c.6015C>A	XP_016885095.1:p.Asp2005Glu
XM_017029607.2:c.6012C>A	XP_016885096.1:p.Asp2004Glu
XM_017029608.2:c.5964C>A	XP_016885097.1:p.Asp1988Glu
XM_017029609.1:c.5928C>A	XP_016885098.1:p.Asp1976Glu
XM_017029610.1:c.5925C>A	XP_016885099.1:p.Asp1975Glu
XM_017029611.1:c.5880C>A	XP_016885100.1:p.Asp1960Glu
XR_001755700.2:n.6545C>A
NM_138270.4:c.6132C>A	NP_612114.2:p.Asp2044Glu
NM_000489.6:c.6246C>A MANE Select	NP_000480.3:p.Asp2082Glu
NM_138270.5:c.6132C>A	NP_612114.2:p.Asp2044Glu