Canonical Allele Identifier: CA413704612

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76764007C>A (hg19) ; chrX:g.77508529C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508529C>A , CM000685.2:g.77508529C>A	GRCh38
NC_000023.10:g.76764007C>A , CM000685.1:g.76764007C>A	GRCh37
NC_000023.9:g.76650663C>A	NCBI36
NG_008838.2:g.282693G>T
NG_008838.3:g.282741G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7301G>T MANE Select	ENSP00000362441.4:p.Gly2434Val
ENST00000675732.1:c.2399G>T	ENSP00000502598.1:p.Gly800Val
ENST00000373344.9:c.7301G>T	ENSP00000362441.4:p.Gly2434Val
ENST00000395603.7:c.7187G>T	ENSP00000378967.3:p.Gly2396Val
ENST00000480283.5:c.*6929G>T	ENSP00000480196.1:n.*6929G>T
ENST00000623706.3:n.5621G>T
ENST00000624766.1:n.532G>T
NM_000489.4:c.7301G>T	NP_000480.3:p.Gly2434Val
NM_138270.3:c.7187G>T	NP_612114.2:p.Gly2396Val
XM_005262153.3:c.7298G>T	XP_005262210.2:p.Gly2433Val
XM_005262154.3:c.7214G>T	XP_005262211.2:p.Gly2405Val
XM_005262155.3:c.7184G>T	XP_005262212.2:p.Gly2395Val
XM_005262156.3:c.7136G>T	XP_005262213.2:p.Gly2379Val
XM_005262157.3:c.7097G>T	XP_005262214.2:p.Gly2366Val
XM_006724666.2:c.7184G>T	XP_006724729.1:p.Gly2395Val
XM_006724667.2:c.7022G>T	XP_006724730.1:p.Gly2341Val
XR_938400.1:n.8893G>T
NM_000489.5:c.7301G>T	NP_000480.3:p.Gly2434Val
XM_005262153.5:c.7298G>T	XP_005262210.2:p.Gly2433Val
XM_005262154.5:c.7214G>T	XP_005262211.2:p.Gly2405Val
XM_005262155.4:c.7184G>T	XP_005262212.2:p.Gly2395Val
XM_005262156.4:c.7136G>T	XP_005262213.2:p.Gly2379Val
XM_005262157.5:c.7097G>T	XP_005262214.2:p.Gly2366Val
XM_006724666.4:c.7184G>T	XP_006724729.1:p.Gly2395Val
XM_006724667.3:c.7022G>T	XP_006724730.1:p.Gly2341Val
XM_017029601.2:c.7211G>T	XP_016885090.1:p.Gly2404Val
XM_017029602.1:c.7181G>T	XP_016885091.1:p.Gly2394Val
XM_017029603.1:c.7133G>T	XP_016885092.1:p.Gly2378Val
XM_017029604.2:c.7100G>T	XP_016885093.1:p.Gly2367Val
XM_017029605.1:c.7097G>T	XP_016885094.1:p.Gly2366Val
XM_017029606.2:c.7070G>T	XP_016885095.1:p.Gly2357Val
XM_017029607.2:c.7067G>T	XP_016885096.1:p.Gly2356Val
XM_017029608.2:c.7019G>T	XP_016885097.1:p.Gly2340Val
XM_017029609.1:c.6983G>T	XP_016885098.1:p.Gly2328Val
XM_017029610.1:c.6980G>T	XP_016885099.1:p.Gly2327Val
XM_017029611.1:c.6935G>T	XP_016885100.1:p.Gly2312Val
XR_001755700.2:n.7600G>T
NM_138270.4:c.7187G>T	NP_612114.2:p.Gly2396Val
NM_000489.6:c.7301G>T MANE Select	NP_000480.3:p.Gly2434Val
NM_138270.5:c.7187G>T	NP_612114.2:p.Gly2396Val