Canonical Allele Identifier: CA413707046

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76776293G>T (hg19) ; chrX:g.77520815G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77520815G>T , CM000685.2:g.77520815G>T	GRCh38
NC_000023.10:g.76776293G>T , CM000685.1:g.76776293G>T	GRCh37
NC_000023.9:g.76662949G>T	NCBI36
NG_008838.2:g.270407C>A
NG_008838.3:g.270455C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7173C>A MANE Select	ENSP00000362441.4:p.Tyr2391Ter
ENST00000675732.1:c.2271C>A	ENSP00000502598.1:p.Tyr757Ter
ENST00000373344.9:c.7173C>A	ENSP00000362441.4:p.Tyr2391Ter
ENST00000395603.7:c.7059C>A	ENSP00000378967.3:p.Tyr2353Ter
ENST00000480283.5:c.*6801C>A	ENSP00000480196.1:n.*6801C>A
ENST00000623706.3:n.5493C>A
ENST00000624766.1:n.404C>A
NM_000489.4:c.7173C>A	NP_000480.3:p.Tyr2391Ter
NM_138270.3:c.7059C>A	NP_612114.2:p.Tyr2353Ter
XM_005262153.3:c.7170C>A	XP_005262210.2:p.Tyr2390Ter
XM_005262154.3:c.7086C>A	XP_005262211.2:p.Tyr2362Ter
XM_005262155.3:c.7056C>A	XP_005262212.2:p.Tyr2352Ter
XM_005262156.3:c.7008C>A	XP_005262213.2:p.Tyr2336Ter
XM_005262157.3:c.6969C>A	XP_005262214.2:p.Tyr2323Ter
XM_006724666.2:c.7056C>A	XP_006724729.1:p.Tyr2352Ter
XM_006724667.2:c.6894C>A	XP_006724730.1:p.Tyr2298Ter
XR_938400.1:n.8765C>A
NM_000489.5:c.7173C>A	NP_000480.3:p.Tyr2391Ter
XM_005262153.5:c.7170C>A	XP_005262210.2:p.Tyr2390Ter
XM_005262154.5:c.7086C>A	XP_005262211.2:p.Tyr2362Ter
XM_005262155.4:c.7056C>A	XP_005262212.2:p.Tyr2352Ter
XM_005262156.4:c.7008C>A	XP_005262213.2:p.Tyr2336Ter
XM_005262157.5:c.6969C>A	XP_005262214.2:p.Tyr2323Ter
XM_006724666.4:c.7056C>A	XP_006724729.1:p.Tyr2352Ter
XM_006724667.3:c.6894C>A	XP_006724730.1:p.Tyr2298Ter
XM_017029601.2:c.7083C>A	XP_016885090.1:p.Tyr2361Ter
XM_017029602.1:c.7053C>A	XP_016885091.1:p.Tyr2351Ter
XM_017029603.1:c.7005C>A	XP_016885092.1:p.Tyr2335Ter
XM_017029604.2:c.6972C>A	XP_016885093.1:p.Tyr2324Ter
XM_017029605.1:c.6969C>A	XP_016885094.1:p.Tyr2323Ter
XM_017029606.2:c.6942C>A	XP_016885095.1:p.Tyr2314Ter
XM_017029607.2:c.6939C>A	XP_016885096.1:p.Tyr2313Ter
XM_017029608.2:c.6891C>A	XP_016885097.1:p.Tyr2297Ter
XM_017029609.1:c.6855C>A	XP_016885098.1:p.Tyr2285Ter
XM_017029610.1:c.6852C>A	XP_016885099.1:p.Tyr2284Ter
XM_017029611.1:c.6807C>A	XP_016885100.1:p.Tyr2269Ter
XR_001755700.2:n.7472C>A
NM_138270.4:c.7059C>A	NP_612114.2:p.Tyr2353Ter
NM_000489.6:c.7173C>A MANE Select	NP_000480.3:p.Tyr2391Ter
NM_138270.5:c.7059C>A	NP_612114.2:p.Tyr2353Ter