Canonical Allele Identifier: CA517374074

Gene: ATRX

Linked Data

• gnomAD v4: X-77508461-T-G
• MyVariant Identifiers: chrX:g.76763939T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508461T>G , CM000685.2:g.77508461T>G	GRCh38
NC_000023.10:g.76763939T>G , CM000685.1:g.76763939T>G	GRCh37
NC_000023.9:g.76650595T>G	NCBI36
NG_008838.2:g.282761A>C
NG_008838.3:g.282809A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7369A>C MANE Select	ENSP00000362441.4:p.Arg2457=
ENST00000675732.1:c.2467A>C	ENSP00000502598.1:p.Arg823=
ENST00000373344.9:c.7369A>C	ENSP00000362441.4:p.Arg2457=
ENST00000395603.7:c.7255A>C	ENSP00000378967.3:p.Arg2419=
ENST00000480283.5:c.*6997A>C	ENSP00000480196.1:n.*6997A>C
ENST00000623706.3:n.5689A>C
NM_000489.4:c.7369A>C	NP_000480.3:p.Arg2457=
NM_138270.3:c.7255A>C	NP_612114.2:p.Arg2419=
XM_005262153.3:c.7366A>C	XP_005262210.2:p.Arg2456=
XM_005262154.3:c.7282A>C	XP_005262211.2:p.Arg2428=
XM_005262155.3:c.7252A>C	XP_005262212.2:p.Arg2418=
XM_005262156.3:c.7204A>C	XP_005262213.2:p.Arg2402=
XM_005262157.3:c.7165A>C	XP_005262214.2:p.Arg2389=
XM_006724666.2:c.7252A>C	XP_006724729.1:p.Arg2418=
XM_006724667.2:c.7090A>C	XP_006724730.1:p.Arg2364=
XR_938400.1:n.8961A>C
NM_000489.5:c.7369A>C	NP_000480.3:p.Arg2457=
XM_005262153.5:c.7366A>C	XP_005262210.2:p.Arg2456=
XM_005262154.5:c.7282A>C	XP_005262211.2:p.Arg2428=
XM_005262155.4:c.7252A>C	XP_005262212.2:p.Arg2418=
XM_005262156.4:c.7204A>C	XP_005262213.2:p.Arg2402=
XM_005262157.5:c.7165A>C	XP_005262214.2:p.Arg2389=
XM_006724666.4:c.7252A>C	XP_006724729.1:p.Arg2418=
XM_006724667.3:c.7090A>C	XP_006724730.1:p.Arg2364=
XM_017029601.2:c.7279A>C	XP_016885090.1:p.Arg2427=
XM_017029602.1:c.7249A>C	XP_016885091.1:p.Arg2417=
XM_017029603.1:c.7201A>C	XP_016885092.1:p.Arg2401=
XM_017029604.2:c.7168A>C	XP_016885093.1:p.Arg2390=
XM_017029605.1:c.7165A>C	XP_016885094.1:p.Arg2389=
XM_017029606.2:c.7138A>C	XP_016885095.1:p.Arg2380=
XM_017029607.2:c.7135A>C	XP_016885096.1:p.Arg2379=
XM_017029608.2:c.7087A>C	XP_016885097.1:p.Arg2363=
XM_017029609.1:c.7051A>C	XP_016885098.1:p.Arg2351=
XM_017029610.1:c.7048A>C	XP_016885099.1:p.Arg2350=
XM_017029611.1:c.7003A>C	XP_016885100.1:p.Arg2335=
XR_001755700.2:n.7668A>C
NM_138270.4:c.7255A>C	NP_612114.2:p.Arg2419=
NM_000489.6:c.7369A>C MANE Select	NP_000480.3:p.Arg2457=
NM_138270.5:c.7255A>C	NP_612114.2:p.Arg2419=