Canonical Allele Identifier: CA517374817

Gene: ATRX

Linked Data

• gnomAD v4: X-77574333-A-G
• MyVariant Identifiers: chrX:g.76829798A>G (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6243T>C MANE Select	ENSP00000362441.4:p.Ile2081=
ENST00000636152.1:n.78T>C
ENST00000675732.1:c.1341T>C	ENSP00000502598.1:p.Ile447=
ENST00000373344.9:c.6243T>C	ENSP00000362441.4:p.Ile2081=
ENST00000395603.7:c.6129T>C	ENSP00000378967.3:p.Ile2043=
ENST00000480283.5:c.*5871T>C	ENSP00000480196.1:n.*5871T>C
ENST00000623316.1:c.727T>C
ENST00000623706.3:n.3313T>C
NM_000489.4:c.6243T>C	NP_000480.3:p.Ile2081=
NM_138270.3:c.6129T>C	NP_612114.2:p.Ile2043=
XM_005262153.3:c.6240T>C	XP_005262210.2:p.Ile2080=
XM_005262154.3:c.6156T>C	XP_005262211.2:p.Ile2052=
XM_005262155.3:c.6126T>C	XP_005262212.2:p.Ile2042=
XM_005262156.3:c.6078T>C	XP_005262213.2:p.Ile2026=
XM_005262157.3:c.6039T>C	XP_005262214.2:p.Ile2013=
XM_006724666.2:c.6126T>C	XP_006724729.1:p.Ile2042=
XM_006724667.2:c.5964T>C	XP_006724730.1:p.Ile1988=
XR_938400.1:n.6585T>C
NM_000489.5:c.6243T>C	NP_000480.3:p.Ile2081=
XM_005262153.5:c.6240T>C	XP_005262210.2:p.Ile2080=
XM_005262154.5:c.6156T>C	XP_005262211.2:p.Ile2052=
XM_005262155.4:c.6126T>C	XP_005262212.2:p.Ile2042=
XM_005262156.4:c.6078T>C	XP_005262213.2:p.Ile2026=
XM_005262157.5:c.6039T>C	XP_005262214.2:p.Ile2013=
XM_006724666.4:c.6126T>C	XP_006724729.1:p.Ile2042=
XM_006724667.3:c.5964T>C	XP_006724730.1:p.Ile1988=
XM_017029601.2:c.6153T>C	XP_016885090.1:p.Ile2051=
XM_017029602.1:c.6123T>C	XP_016885091.1:p.Ile2041=
XM_017029603.1:c.6075T>C	XP_016885092.1:p.Ile2025=
XM_017029604.2:c.6042T>C	XP_016885093.1:p.Ile2014=
XM_017029605.1:c.6039T>C	XP_016885094.1:p.Ile2013=
XM_017029606.2:c.6012T>C	XP_016885095.1:p.Ile2004=
XM_017029607.2:c.6009T>C	XP_016885096.1:p.Ile2003=
XM_017029608.2:c.5961T>C	XP_016885097.1:p.Ile1987=
XM_017029609.1:c.5925T>C	XP_016885098.1:p.Ile1975=
XM_017029610.1:c.5922T>C	XP_016885099.1:p.Ile1974=
XM_017029611.1:c.5877T>C	XP_016885100.1:p.Ile1959=
XR_001755700.2:n.6542T>C
NM_138270.4:c.6129T>C	NP_612114.2:p.Ile2043=
NM_000489.6:c.6243T>C MANE Select	NP_000480.3:p.Ile2081=
NM_138270.5:c.6129T>C	NP_612114.2:p.Ile2043=