Canonical Allele Identifier: CA413704622

Gene: ATRX

Linked Data

• dbSNP Id: rs2062761374
• MyVariant Identifiers: chrX:g.76764008C>A (hg19) ; chrX:g.77508530C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508530C>A , CM000685.2:g.77508530C>A	GRCh38
NC_000023.10:g.76764008C>A , CM000685.1:g.76764008C>A	GRCh37
NC_000023.9:g.76650664C>A	NCBI36
NG_008838.2:g.282692G>T
NG_008838.3:g.282740G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7300G>T MANE Select	ENSP00000362441.4:p.Gly2434Cys
ENST00000675732.1:c.2398G>T	ENSP00000502598.1:p.Gly800Cys
ENST00000373344.9:c.7300G>T	ENSP00000362441.4:p.Gly2434Cys
ENST00000395603.7:c.7186G>T	ENSP00000378967.3:p.Gly2396Cys
ENST00000480283.5:c.*6928G>T	ENSP00000480196.1:n.*6928G>T
ENST00000623706.3:n.5620G>T
ENST00000624766.1:n.531G>T
NM_000489.4:c.7300G>T	NP_000480.3:p.Gly2434Cys
NM_138270.3:c.7186G>T	NP_612114.2:p.Gly2396Cys
XM_005262153.3:c.7297G>T	XP_005262210.2:p.Gly2433Cys
XM_005262154.3:c.7213G>T	XP_005262211.2:p.Gly2405Cys
XM_005262155.3:c.7183G>T	XP_005262212.2:p.Gly2395Cys
XM_005262156.3:c.7135G>T	XP_005262213.2:p.Gly2379Cys
XM_005262157.3:c.7096G>T	XP_005262214.2:p.Gly2366Cys
XM_006724666.2:c.7183G>T	XP_006724729.1:p.Gly2395Cys
XM_006724667.2:c.7021G>T	XP_006724730.1:p.Gly2341Cys
XR_938400.1:n.8892G>T
NM_000489.5:c.7300G>T	NP_000480.3:p.Gly2434Cys
XM_005262153.5:c.7297G>T	XP_005262210.2:p.Gly2433Cys
XM_005262154.5:c.7213G>T	XP_005262211.2:p.Gly2405Cys
XM_005262155.4:c.7183G>T	XP_005262212.2:p.Gly2395Cys
XM_005262156.4:c.7135G>T	XP_005262213.2:p.Gly2379Cys
XM_005262157.5:c.7096G>T	XP_005262214.2:p.Gly2366Cys
XM_006724666.4:c.7183G>T	XP_006724729.1:p.Gly2395Cys
XM_006724667.3:c.7021G>T	XP_006724730.1:p.Gly2341Cys
XM_017029601.2:c.7210G>T	XP_016885090.1:p.Gly2404Cys
XM_017029602.1:c.7180G>T	XP_016885091.1:p.Gly2394Cys
XM_017029603.1:c.7132G>T	XP_016885092.1:p.Gly2378Cys
XM_017029604.2:c.7099G>T	XP_016885093.1:p.Gly2367Cys
XM_017029605.1:c.7096G>T	XP_016885094.1:p.Gly2366Cys
XM_017029606.2:c.7069G>T	XP_016885095.1:p.Gly2357Cys
XM_017029607.2:c.7066G>T	XP_016885096.1:p.Gly2356Cys
XM_017029608.2:c.7018G>T	XP_016885097.1:p.Gly2340Cys
XM_017029609.1:c.6982G>T	XP_016885098.1:p.Gly2328Cys
XM_017029610.1:c.6979G>T	XP_016885099.1:p.Gly2327Cys
XM_017029611.1:c.6934G>T	XP_016885100.1:p.Gly2312Cys
XR_001755700.2:n.7599G>T
NM_138270.4:c.7186G>T	NP_612114.2:p.Gly2396Cys
NM_000489.6:c.7300G>T MANE Select	NP_000480.3:p.Gly2434Cys
NM_138270.5:c.7186G>T	NP_612114.2:p.Gly2396Cys