Canonical Allele Identifier: CA413701233

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76829798A>C (hg19) ; chrX:g.77574333A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574333A>C , CM000685.2:g.77574333A>C	GRCh38
NC_000023.10:g.76829798A>C , CM000685.1:g.76829798A>C	GRCh37
NC_000023.9:g.76716454A>C	NCBI36
NG_008838.2:g.216889T>G
NG_008838.3:g.216937T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6243T>G MANE Select	ENSP00000362441.4:p.Ile2081Met
ENST00000636152.1:n.78T>G
ENST00000675732.1:c.1341T>G	ENSP00000502598.1:p.Ile447Met
ENST00000373344.9:c.6243T>G	ENSP00000362441.4:p.Ile2081Met
ENST00000395603.7:c.6129T>G	ENSP00000378967.3:p.Ile2043Met
ENST00000480283.5:c.*5871T>G	ENSP00000480196.1:n.*5871T>G
ENST00000623316.1:c.727T>G
ENST00000623706.3:n.3313T>G
NM_000489.4:c.6243T>G	NP_000480.3:p.Ile2081Met
NM_138270.3:c.6129T>G	NP_612114.2:p.Ile2043Met
XM_005262153.3:c.6240T>G	XP_005262210.2:p.Ile2080Met
XM_005262154.3:c.6156T>G	XP_005262211.2:p.Ile2052Met
XM_005262155.3:c.6126T>G	XP_005262212.2:p.Ile2042Met
XM_005262156.3:c.6078T>G	XP_005262213.2:p.Ile2026Met
XM_005262157.3:c.6039T>G	XP_005262214.2:p.Ile2013Met
XM_006724666.2:c.6126T>G	XP_006724729.1:p.Ile2042Met
XM_006724667.2:c.5964T>G	XP_006724730.1:p.Ile1988Met
XR_938400.1:n.6585T>G
NM_000489.5:c.6243T>G	NP_000480.3:p.Ile2081Met
XM_005262153.5:c.6240T>G	XP_005262210.2:p.Ile2080Met
XM_005262154.5:c.6156T>G	XP_005262211.2:p.Ile2052Met
XM_005262155.4:c.6126T>G	XP_005262212.2:p.Ile2042Met
XM_005262156.4:c.6078T>G	XP_005262213.2:p.Ile2026Met
XM_005262157.5:c.6039T>G	XP_005262214.2:p.Ile2013Met
XM_006724666.4:c.6126T>G	XP_006724729.1:p.Ile2042Met
XM_006724667.3:c.5964T>G	XP_006724730.1:p.Ile1988Met
XM_017029601.2:c.6153T>G	XP_016885090.1:p.Ile2051Met
XM_017029602.1:c.6123T>G	XP_016885091.1:p.Ile2041Met
XM_017029603.1:c.6075T>G	XP_016885092.1:p.Ile2025Met
XM_017029604.2:c.6042T>G	XP_016885093.1:p.Ile2014Met
XM_017029605.1:c.6039T>G	XP_016885094.1:p.Ile2013Met
XM_017029606.2:c.6012T>G	XP_016885095.1:p.Ile2004Met
XM_017029607.2:c.6009T>G	XP_016885096.1:p.Ile2003Met
XM_017029608.2:c.5961T>G	XP_016885097.1:p.Ile1987Met
XM_017029609.1:c.5925T>G	XP_016885098.1:p.Ile1975Met
XM_017029610.1:c.5922T>G	XP_016885099.1:p.Ile1974Met
XM_017029611.1:c.5877T>G	XP_016885100.1:p.Ile1959Met
XR_001755700.2:n.6542T>G
NM_138270.4:c.6129T>G	NP_612114.2:p.Ile2043Met
NM_000489.6:c.6243T>G MANE Select	NP_000480.3:p.Ile2081Met
NM_138270.5:c.6129T>G	NP_612114.2:p.Ile2043Met