Canonical Allele Identifier: CA517374119

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763979A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508501A>G , CM000685.2:g.77508501A>G	GRCh38
NC_000023.10:g.76763979A>G , CM000685.1:g.76763979A>G	GRCh37
NC_000023.9:g.76650635A>G	NCBI36
NG_008838.2:g.282721T>C
NG_008838.3:g.282769T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7329T>C MANE Select	ENSP00000362441.4:p.Asn2443=
ENST00000675732.1:c.2427T>C	ENSP00000502598.1:p.Asn809=
ENST00000373344.9:c.7329T>C	ENSP00000362441.4:p.Asn2443=
ENST00000395603.7:c.7215T>C	ENSP00000378967.3:p.Asn2405=
ENST00000480283.5:c.*6957T>C	ENSP00000480196.1:n.*6957T>C
ENST00000623706.3:n.5649T>C
ENST00000624766.1:n.560T>C
NM_000489.4:c.7329T>C	NP_000480.3:p.Asn2443=
NM_138270.3:c.7215T>C	NP_612114.2:p.Asn2405=
XM_005262153.3:c.7326T>C	XP_005262210.2:p.Asn2442=
XM_005262154.3:c.7242T>C	XP_005262211.2:p.Asn2414=
XM_005262155.3:c.7212T>C	XP_005262212.2:p.Asn2404=
XM_005262156.3:c.7164T>C	XP_005262213.2:p.Asn2388=
XM_005262157.3:c.7125T>C	XP_005262214.2:p.Asn2375=
XM_006724666.2:c.7212T>C	XP_006724729.1:p.Asn2404=
XM_006724667.2:c.7050T>C	XP_006724730.1:p.Asn2350=
XR_938400.1:n.8921T>C
NM_000489.5:c.7329T>C	NP_000480.3:p.Asn2443=
XM_005262153.5:c.7326T>C	XP_005262210.2:p.Asn2442=
XM_005262154.5:c.7242T>C	XP_005262211.2:p.Asn2414=
XM_005262155.4:c.7212T>C	XP_005262212.2:p.Asn2404=
XM_005262156.4:c.7164T>C	XP_005262213.2:p.Asn2388=
XM_005262157.5:c.7125T>C	XP_005262214.2:p.Asn2375=
XM_006724666.4:c.7212T>C	XP_006724729.1:p.Asn2404=
XM_006724667.3:c.7050T>C	XP_006724730.1:p.Asn2350=
XM_017029601.2:c.7239T>C	XP_016885090.1:p.Asn2413=
XM_017029602.1:c.7209T>C	XP_016885091.1:p.Asn2403=
XM_017029603.1:c.7161T>C	XP_016885092.1:p.Asn2387=
XM_017029604.2:c.7128T>C	XP_016885093.1:p.Asn2376=
XM_017029605.1:c.7125T>C	XP_016885094.1:p.Asn2375=
XM_017029606.2:c.7098T>C	XP_016885095.1:p.Asn2366=
XM_017029607.2:c.7095T>C	XP_016885096.1:p.Asn2365=
XM_017029608.2:c.7047T>C	XP_016885097.1:p.Asn2349=
XM_017029609.1:c.7011T>C	XP_016885098.1:p.Asn2337=
XM_017029610.1:c.7008T>C	XP_016885099.1:p.Asn2336=
XM_017029611.1:c.6963T>C	XP_016885100.1:p.Asn2321=
XR_001755700.2:n.7628T>C
NM_138270.4:c.7215T>C	NP_612114.2:p.Asn2405=
NM_000489.6:c.7329T>C MANE Select	NP_000480.3:p.Asn2443=
NM_138270.5:c.7215T>C	NP_612114.2:p.Asn2405=