Canonical Allele Identifier: CA413704614

Gene: ATRX

Linked Data

• dbSNP Id: rs2062761248
• MyVariant Identifiers: chrX:g.76764007C>G (hg19) ; chrX:g.77508529C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7301G>C MANE Select	ENSP00000362441.4:p.Gly2434Ala
ENST00000675732.1:c.2399G>C	ENSP00000502598.1:p.Gly800Ala
ENST00000373344.9:c.7301G>C	ENSP00000362441.4:p.Gly2434Ala
ENST00000395603.7:c.7187G>C	ENSP00000378967.3:p.Gly2396Ala
ENST00000480283.5:c.*6929G>C	ENSP00000480196.1:n.*6929G>C
ENST00000623706.3:n.5621G>C
ENST00000624766.1:n.532G>C
NM_000489.4:c.7301G>C	NP_000480.3:p.Gly2434Ala
NM_138270.3:c.7187G>C	NP_612114.2:p.Gly2396Ala
XM_005262153.3:c.7298G>C	XP_005262210.2:p.Gly2433Ala
XM_005262154.3:c.7214G>C	XP_005262211.2:p.Gly2405Ala
XM_005262155.3:c.7184G>C	XP_005262212.2:p.Gly2395Ala
XM_005262156.3:c.7136G>C	XP_005262213.2:p.Gly2379Ala
XM_005262157.3:c.7097G>C	XP_005262214.2:p.Gly2366Ala
XM_006724666.2:c.7184G>C	XP_006724729.1:p.Gly2395Ala
XM_006724667.2:c.7022G>C	XP_006724730.1:p.Gly2341Ala
XR_938400.1:n.8893G>C
NM_000489.5:c.7301G>C	NP_000480.3:p.Gly2434Ala
XM_005262153.5:c.7298G>C	XP_005262210.2:p.Gly2433Ala
XM_005262154.5:c.7214G>C	XP_005262211.2:p.Gly2405Ala
XM_005262155.4:c.7184G>C	XP_005262212.2:p.Gly2395Ala
XM_005262156.4:c.7136G>C	XP_005262213.2:p.Gly2379Ala
XM_005262157.5:c.7097G>C	XP_005262214.2:p.Gly2366Ala
XM_006724666.4:c.7184G>C	XP_006724729.1:p.Gly2395Ala
XM_006724667.3:c.7022G>C	XP_006724730.1:p.Gly2341Ala
XM_017029601.2:c.7211G>C	XP_016885090.1:p.Gly2404Ala
XM_017029602.1:c.7181G>C	XP_016885091.1:p.Gly2394Ala
XM_017029603.1:c.7133G>C	XP_016885092.1:p.Gly2378Ala
XM_017029604.2:c.7100G>C	XP_016885093.1:p.Gly2367Ala
XM_017029605.1:c.7097G>C	XP_016885094.1:p.Gly2366Ala
XM_017029606.2:c.7070G>C	XP_016885095.1:p.Gly2357Ala
XM_017029607.2:c.7067G>C	XP_016885096.1:p.Gly2356Ala
XM_017029608.2:c.7019G>C	XP_016885097.1:p.Gly2340Ala
XM_017029609.1:c.6983G>C	XP_016885098.1:p.Gly2328Ala
XM_017029610.1:c.6980G>C	XP_016885099.1:p.Gly2327Ala
XM_017029611.1:c.6935G>C	XP_016885100.1:p.Gly2312Ala
XR_001755700.2:n.7600G>C
NM_138270.4:c.7187G>C	NP_612114.2:p.Gly2396Ala
NM_000489.6:c.7301G>C MANE Select	NP_000480.3:p.Gly2434Ala
NM_138270.5:c.7187G>C	NP_612114.2:p.Gly2396Ala