Canonical Allele Identifier: CA413704062

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763936C>A (hg19) ; chrX:g.77508458C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508458C>A , CM000685.2:g.77508458C>A	GRCh38
NC_000023.10:g.76763936C>A , CM000685.1:g.76763936C>A	GRCh37
NC_000023.9:g.76650592C>A	NCBI36
NG_008838.2:g.282764G>T
NG_008838.3:g.282812G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7372G>T MANE Select	ENSP00000362441.4:p.Gly2458Ter
ENST00000675732.1:c.2470G>T	ENSP00000502598.1:p.Gly824Ter
ENST00000373344.9:c.7372G>T	ENSP00000362441.4:p.Gly2458Ter
ENST00000395603.7:c.7258G>T	ENSP00000378967.3:p.Gly2420Ter
ENST00000480283.5:c.*7000G>T	ENSP00000480196.1:n.*7000G>T
ENST00000623706.3:n.5692G>T
NM_000489.4:c.7372G>T	NP_000480.3:p.Gly2458Ter
NM_138270.3:c.7258G>T	NP_612114.2:p.Gly2420Ter
XM_005262153.3:c.7369G>T	XP_005262210.2:p.Gly2457Ter
XM_005262154.3:c.7285G>T	XP_005262211.2:p.Gly2429Ter
XM_005262155.3:c.7255G>T	XP_005262212.2:p.Gly2419Ter
XM_005262156.3:c.7207G>T	XP_005262213.2:p.Gly2403Ter
XM_005262157.3:c.7168G>T	XP_005262214.2:p.Gly2390Ter
XM_006724666.2:c.7255G>T	XP_006724729.1:p.Gly2419Ter
XM_006724667.2:c.7093G>T	XP_006724730.1:p.Gly2365Ter
XR_938400.1:n.8964G>T
NM_000489.5:c.7372G>T	NP_000480.3:p.Gly2458Ter
XM_005262153.5:c.7369G>T	XP_005262210.2:p.Gly2457Ter
XM_005262154.5:c.7285G>T	XP_005262211.2:p.Gly2429Ter
XM_005262155.4:c.7255G>T	XP_005262212.2:p.Gly2419Ter
XM_005262156.4:c.7207G>T	XP_005262213.2:p.Gly2403Ter
XM_005262157.5:c.7168G>T	XP_005262214.2:p.Gly2390Ter
XM_006724666.4:c.7255G>T	XP_006724729.1:p.Gly2419Ter
XM_006724667.3:c.7093G>T	XP_006724730.1:p.Gly2365Ter
XM_017029601.2:c.7282G>T	XP_016885090.1:p.Gly2428Ter
XM_017029602.1:c.7252G>T	XP_016885091.1:p.Gly2418Ter
XM_017029603.1:c.7204G>T	XP_016885092.1:p.Gly2402Ter
XM_017029604.2:c.7171G>T	XP_016885093.1:p.Gly2391Ter
XM_017029605.1:c.7168G>T	XP_016885094.1:p.Gly2390Ter
XM_017029606.2:c.7141G>T	XP_016885095.1:p.Gly2381Ter
XM_017029607.2:c.7138G>T	XP_016885096.1:p.Gly2380Ter
XM_017029608.2:c.7090G>T	XP_016885097.1:p.Gly2364Ter
XM_017029609.1:c.7054G>T	XP_016885098.1:p.Gly2352Ter
XM_017029610.1:c.7051G>T	XP_016885099.1:p.Gly2351Ter
XM_017029611.1:c.7006G>T	XP_016885100.1:p.Gly2336Ter
XR_001755700.2:n.7671G>T
NM_138270.4:c.7258G>T	NP_612114.2:p.Gly2420Ter
NM_000489.6:c.7372G>T MANE Select	NP_000480.3:p.Gly2458Ter
NM_138270.5:c.7258G>T	NP_612114.2:p.Gly2420Ter