Canonical Allele Identifier: CA517374810

Gene: ATRX

Linked Data

• dbSNP Id: rs1257919213
• gnomAD v3: X-77574327-A-G
• gnomAD v4: X-77574327-A-G
• MyVariant Identifiers: chrX:g.76829792A>G (hg19) ; chrX:g.77574327A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574327A>G , CM000685.2:g.77574327A>G	GRCh38
NC_000023.10:g.76829792A>G , CM000685.1:g.76829792A>G	GRCh37
NC_000023.9:g.76716448A>G	NCBI36
NG_008838.2:g.216895T>C
NG_008838.3:g.216943T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6249T>C MANE Select	ENSP00000362441.4:p.Tyr2083=
ENST00000636152.1:n.84T>C
ENST00000675732.1:c.1347T>C	ENSP00000502598.1:p.Tyr449=
ENST00000373344.9:c.6249T>C	ENSP00000362441.4:p.Tyr2083=
ENST00000395603.7:c.6135T>C	ENSP00000378967.3:p.Tyr2045=
ENST00000480283.5:c.*5877T>C	ENSP00000480196.1:n.*5877T>C
ENST00000623316.1:c.733T>C
ENST00000623706.3:n.3319T>C
NM_000489.4:c.6249T>C	NP_000480.3:p.Tyr2083=
NM_138270.3:c.6135T>C	NP_612114.2:p.Tyr2045=
XM_005262153.3:c.6246T>C	XP_005262210.2:p.Tyr2082=
XM_005262154.3:c.6162T>C	XP_005262211.2:p.Tyr2054=
XM_005262155.3:c.6132T>C	XP_005262212.2:p.Tyr2044=
XM_005262156.3:c.6084T>C	XP_005262213.2:p.Tyr2028=
XM_005262157.3:c.6045T>C	XP_005262214.2:p.Tyr2015=
XM_006724666.2:c.6132T>C	XP_006724729.1:p.Tyr2044=
XM_006724667.2:c.5970T>C	XP_006724730.1:p.Tyr1990=
XR_938400.1:n.6591T>C
NM_000489.5:c.6249T>C	NP_000480.3:p.Tyr2083=
XM_005262153.5:c.6246T>C	XP_005262210.2:p.Tyr2082=
XM_005262154.5:c.6162T>C	XP_005262211.2:p.Tyr2054=
XM_005262155.4:c.6132T>C	XP_005262212.2:p.Tyr2044=
XM_005262156.4:c.6084T>C	XP_005262213.2:p.Tyr2028=
XM_005262157.5:c.6045T>C	XP_005262214.2:p.Tyr2015=
XM_006724666.4:c.6132T>C	XP_006724729.1:p.Tyr2044=
XM_006724667.3:c.5970T>C	XP_006724730.1:p.Tyr1990=
XM_017029601.2:c.6159T>C	XP_016885090.1:p.Tyr2053=
XM_017029602.1:c.6129T>C	XP_016885091.1:p.Tyr2043=
XM_017029603.1:c.6081T>C	XP_016885092.1:p.Tyr2027=
XM_017029604.2:c.6048T>C	XP_016885093.1:p.Tyr2016=
XM_017029605.1:c.6045T>C	XP_016885094.1:p.Tyr2015=
XM_017029606.2:c.6018T>C	XP_016885095.1:p.Tyr2006=
XM_017029607.2:c.6015T>C	XP_016885096.1:p.Tyr2005=
XM_017029608.2:c.5967T>C	XP_016885097.1:p.Tyr1989=
XM_017029609.1:c.5931T>C	XP_016885098.1:p.Tyr1977=
XM_017029610.1:c.5928T>C	XP_016885099.1:p.Tyr1976=
XM_017029611.1:c.5883T>C	XP_016885100.1:p.Tyr1961=
XR_001755700.2:n.6548T>C
NM_138270.4:c.6135T>C	NP_612114.2:p.Tyr2045=
NM_000489.6:c.6249T>C MANE Select	NP_000480.3:p.Tyr2083=
NM_138270.5:c.6135T>C	NP_612114.2:p.Tyr2045=