Canonical Allele Identifier: CA413704246

Gene: ATRX

Linked Data

• dbSNP Id: rs2147648910
• MyVariant Identifiers: chrX:g.76763962G>C (hg19) ; chrX:g.77508484G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508484G>C , CM000685.2:g.77508484G>C	GRCh38
NC_000023.10:g.76763962G>C , CM000685.1:g.76763962G>C	GRCh37
NC_000023.9:g.76650618G>C	NCBI36
NG_008838.2:g.282738C>G
NG_008838.3:g.282786C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7346C>G MANE Select	ENSP00000362441.4:p.Ser2449Cys
ENST00000675732.1:c.2444C>G	ENSP00000502598.1:p.Ser815Cys
ENST00000373344.9:c.7346C>G	ENSP00000362441.4:p.Ser2449Cys
ENST00000395603.7:c.7232C>G	ENSP00000378967.3:p.Ser2411Cys
ENST00000480283.5:c.*6974C>G	ENSP00000480196.1:n.*6974C>G
ENST00000623706.3:n.5666C>G
ENST00000624766.1:n.577C>G
NM_000489.4:c.7346C>G	NP_000480.3:p.Ser2449Cys
NM_138270.3:c.7232C>G	NP_612114.2:p.Ser2411Cys
XM_005262153.3:c.7343C>G	XP_005262210.2:p.Ser2448Cys
XM_005262154.3:c.7259C>G	XP_005262211.2:p.Ser2420Cys
XM_005262155.3:c.7229C>G	XP_005262212.2:p.Ser2410Cys
XM_005262156.3:c.7181C>G	XP_005262213.2:p.Ser2394Cys
XM_005262157.3:c.7142C>G	XP_005262214.2:p.Ser2381Cys
XM_006724666.2:c.7229C>G	XP_006724729.1:p.Ser2410Cys
XM_006724667.2:c.7067C>G	XP_006724730.1:p.Ser2356Cys
XR_938400.1:n.8938C>G
NM_000489.5:c.7346C>G	NP_000480.3:p.Ser2449Cys
XM_005262153.5:c.7343C>G	XP_005262210.2:p.Ser2448Cys
XM_005262154.5:c.7259C>G	XP_005262211.2:p.Ser2420Cys
XM_005262155.4:c.7229C>G	XP_005262212.2:p.Ser2410Cys
XM_005262156.4:c.7181C>G	XP_005262213.2:p.Ser2394Cys
XM_005262157.5:c.7142C>G	XP_005262214.2:p.Ser2381Cys
XM_006724666.4:c.7229C>G	XP_006724729.1:p.Ser2410Cys
XM_006724667.3:c.7067C>G	XP_006724730.1:p.Ser2356Cys
XM_017029601.2:c.7256C>G	XP_016885090.1:p.Ser2419Cys
XM_017029602.1:c.7226C>G	XP_016885091.1:p.Ser2409Cys
XM_017029603.1:c.7178C>G	XP_016885092.1:p.Ser2393Cys
XM_017029604.2:c.7145C>G	XP_016885093.1:p.Ser2382Cys
XM_017029605.1:c.7142C>G	XP_016885094.1:p.Ser2381Cys
XM_017029606.2:c.7115C>G	XP_016885095.1:p.Ser2372Cys
XM_017029607.2:c.7112C>G	XP_016885096.1:p.Ser2371Cys
XM_017029608.2:c.7064C>G	XP_016885097.1:p.Ser2355Cys
XM_017029609.1:c.7028C>G	XP_016885098.1:p.Ser2343Cys
XM_017029610.1:c.7025C>G	XP_016885099.1:p.Ser2342Cys
XM_017029611.1:c.6980C>G	XP_016885100.1:p.Ser2327Cys
XR_001755700.2:n.7645C>G
NM_138270.4:c.7232C>G	NP_612114.2:p.Ser2411Cys
NM_000489.6:c.7346C>G MANE Select	NP_000480.3:p.Ser2449Cys
NM_138270.5:c.7232C>G	NP_612114.2:p.Ser2411Cys