Canonical Allele Identifier: CA517374425

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76776371T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77520893T>A , CM000685.2:g.77520893T>A	GRCh38
NC_000023.10:g.76776371T>A , CM000685.1:g.76776371T>A	GRCh37
NC_000023.9:g.76663027T>A	NCBI36
NG_008838.2:g.270329A>T
NG_008838.3:g.270377A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7095A>T MANE Select	ENSP00000362441.4:p.Ser2365=
ENST00000675732.1:c.2193A>T	ENSP00000502598.1:p.Ser731=
ENST00000373344.9:c.7095A>T	ENSP00000362441.4:p.Ser2365=
ENST00000395603.7:c.6981A>T	ENSP00000378967.3:p.Ser2327=
ENST00000480283.5:c.*6723A>T	ENSP00000480196.1:n.*6723A>T
ENST00000623706.3:n.5415A>T
ENST00000624766.1:n.326A>T
NM_000489.4:c.7095A>T	NP_000480.3:p.Ser2365=
NM_138270.3:c.6981A>T	NP_612114.2:p.Ser2327=
XM_005262153.3:c.7092A>T	XP_005262210.2:p.Ser2364=
XM_005262154.3:c.7008A>T	XP_005262211.2:p.Ser2336=
XM_005262155.3:c.6978A>T	XP_005262212.2:p.Ser2326=
XM_005262156.3:c.6930A>T	XP_005262213.2:p.Ser2310=
XM_005262157.3:c.6891A>T	XP_005262214.2:p.Ser2297=
XM_006724666.2:c.6978A>T	XP_006724729.1:p.Ser2326=
XM_006724667.2:c.6816A>T	XP_006724730.1:p.Ser2272=
XR_938400.1:n.8687A>T
NM_000489.5:c.7095A>T	NP_000480.3:p.Ser2365=
XM_005262153.5:c.7092A>T	XP_005262210.2:p.Ser2364=
XM_005262154.5:c.7008A>T	XP_005262211.2:p.Ser2336=
XM_005262155.4:c.6978A>T	XP_005262212.2:p.Ser2326=
XM_005262156.4:c.6930A>T	XP_005262213.2:p.Ser2310=
XM_005262157.5:c.6891A>T	XP_005262214.2:p.Ser2297=
XM_006724666.4:c.6978A>T	XP_006724729.1:p.Ser2326=
XM_006724667.3:c.6816A>T	XP_006724730.1:p.Ser2272=
XM_017029601.2:c.7005A>T	XP_016885090.1:p.Ser2335=
XM_017029602.1:c.6975A>T	XP_016885091.1:p.Ser2325=
XM_017029603.1:c.6927A>T	XP_016885092.1:p.Ser2309=
XM_017029604.2:c.6894A>T	XP_016885093.1:p.Ser2298=
XM_017029605.1:c.6891A>T	XP_016885094.1:p.Ser2297=
XM_017029606.2:c.6864A>T	XP_016885095.1:p.Ser2288=
XM_017029607.2:c.6861A>T	XP_016885096.1:p.Ser2287=
XM_017029608.2:c.6813A>T	XP_016885097.1:p.Ser2271=
XM_017029609.1:c.6777A>T	XP_016885098.1:p.Ser2259=
XM_017029610.1:c.6774A>T	XP_016885099.1:p.Ser2258=
XM_017029611.1:c.6729A>T	XP_016885100.1:p.Ser2243=
XR_001755700.2:n.7394A>T
NM_138270.4:c.6981A>T	NP_612114.2:p.Ser2327=
NM_000489.6:c.7095A>T MANE Select	NP_000480.3:p.Ser2365=
NM_138270.5:c.6981A>T	NP_612114.2:p.Ser2327=