Canonical Allele Identifier: CA413700862

Gene: ATRX

Linked Data

• gnomAD v4: X-77574259-G-C
• MyVariant Identifiers: chrX:g.76829724G>C (hg19) ; chrX:g.77574259G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574259G>C , CM000685.2:g.77574259G>C	GRCh38
NC_000023.10:g.76829724G>C , CM000685.1:g.76829724G>C	GRCh37
NC_000023.9:g.76716380G>C	NCBI36
NG_008838.2:g.216963C>G
NG_008838.3:g.217011C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6317C>G MANE Select	ENSP00000362441.4:p.Thr2106Ser
ENST00000675732.1:c.1415C>G	ENSP00000502598.1:p.Thr472Ser
ENST00000373344.9:c.6317C>G	ENSP00000362441.4:p.Thr2106Ser
ENST00000395603.7:c.6203C>G	ENSP00000378967.3:p.Thr2068Ser
ENST00000480283.5:c.*5945C>G	ENSP00000480196.1:n.*5945C>G
ENST00000623316.1:c.801C>G
ENST00000623706.3:n.3387C>G
NM_000489.4:c.6317C>G	NP_000480.3:p.Thr2106Ser
NM_138270.3:c.6203C>G	NP_612114.2:p.Thr2068Ser
XM_005262153.3:c.6314C>G	XP_005262210.2:p.Thr2105Ser
XM_005262154.3:c.6230C>G	XP_005262211.2:p.Thr2077Ser
XM_005262155.3:c.6200C>G	XP_005262212.2:p.Thr2067Ser
XM_005262156.3:c.6152C>G	XP_005262213.2:p.Thr2051Ser
XM_005262157.3:c.6113C>G	XP_005262214.2:p.Thr2038Ser
XM_006724666.2:c.6200C>G	XP_006724729.1:p.Thr2067Ser
XM_006724667.2:c.6038C>G	XP_006724730.1:p.Thr2013Ser
XR_938400.1:n.6659C>G
NM_000489.5:c.6317C>G	NP_000480.3:p.Thr2106Ser
XM_005262153.5:c.6314C>G	XP_005262210.2:p.Thr2105Ser
XM_005262154.5:c.6230C>G	XP_005262211.2:p.Thr2077Ser
XM_005262155.4:c.6200C>G	XP_005262212.2:p.Thr2067Ser
XM_005262156.4:c.6152C>G	XP_005262213.2:p.Thr2051Ser
XM_005262157.5:c.6113C>G	XP_005262214.2:p.Thr2038Ser
XM_006724666.4:c.6200C>G	XP_006724729.1:p.Thr2067Ser
XM_006724667.3:c.6038C>G	XP_006724730.1:p.Thr2013Ser
XM_017029601.2:c.6227C>G	XP_016885090.1:p.Thr2076Ser
XM_017029602.1:c.6197C>G	XP_016885091.1:p.Thr2066Ser
XM_017029603.1:c.6149C>G	XP_016885092.1:p.Thr2050Ser
XM_017029604.2:c.6116C>G	XP_016885093.1:p.Thr2039Ser
XM_017029605.1:c.6113C>G	XP_016885094.1:p.Thr2038Ser
XM_017029606.2:c.6086C>G	XP_016885095.1:p.Thr2029Ser
XM_017029607.2:c.6083C>G	XP_016885096.1:p.Thr2028Ser
XM_017029608.2:c.6035C>G	XP_016885097.1:p.Thr2012Ser
XM_017029609.1:c.5999C>G	XP_016885098.1:p.Thr2000Ser
XM_017029610.1:c.5996C>G	XP_016885099.1:p.Thr1999Ser
XM_017029611.1:c.5951C>G	XP_016885100.1:p.Thr1984Ser
XR_001755700.2:n.6616C>G
NM_138270.4:c.6203C>G	NP_612114.2:p.Thr2068Ser
NM_000489.6:c.6317C>G MANE Select	NP_000480.3:p.Thr2106Ser
NM_138270.5:c.6203C>G	NP_612114.2:p.Thr2068Ser