Canonical Allele Identifier: CA413707284

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76776348G>C (hg19) ; chrX:g.77520870G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77520870G>C , CM000685.2:g.77520870G>C	GRCh38
NC_000023.10:g.76776348G>C , CM000685.1:g.76776348G>C	GRCh37
NC_000023.9:g.76663004G>C	NCBI36
NG_008838.2:g.270352C>G
NG_008838.3:g.270400C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7118C>G MANE Select	ENSP00000362441.4:p.Ala2373Gly
ENST00000675732.1:c.2216C>G	ENSP00000502598.1:p.Ala739Gly
ENST00000373344.9:c.7118C>G	ENSP00000362441.4:p.Ala2373Gly
ENST00000395603.7:c.7004C>G	ENSP00000378967.3:p.Ala2335Gly
ENST00000480283.5:c.*6746C>G	ENSP00000480196.1:n.*6746C>G
ENST00000623706.3:n.5438C>G
ENST00000624766.1:n.349C>G
NM_000489.4:c.7118C>G	NP_000480.3:p.Ala2373Gly
NM_138270.3:c.7004C>G	NP_612114.2:p.Ala2335Gly
XM_005262153.3:c.7115C>G	XP_005262210.2:p.Ala2372Gly
XM_005262154.3:c.7031C>G	XP_005262211.2:p.Ala2344Gly
XM_005262155.3:c.7001C>G	XP_005262212.2:p.Ala2334Gly
XM_005262156.3:c.6953C>G	XP_005262213.2:p.Ala2318Gly
XM_005262157.3:c.6914C>G	XP_005262214.2:p.Ala2305Gly
XM_006724666.2:c.7001C>G	XP_006724729.1:p.Ala2334Gly
XM_006724667.2:c.6839C>G	XP_006724730.1:p.Ala2280Gly
XR_938400.1:n.8710C>G
NM_000489.5:c.7118C>G	NP_000480.3:p.Ala2373Gly
XM_005262153.5:c.7115C>G	XP_005262210.2:p.Ala2372Gly
XM_005262154.5:c.7031C>G	XP_005262211.2:p.Ala2344Gly
XM_005262155.4:c.7001C>G	XP_005262212.2:p.Ala2334Gly
XM_005262156.4:c.6953C>G	XP_005262213.2:p.Ala2318Gly
XM_005262157.5:c.6914C>G	XP_005262214.2:p.Ala2305Gly
XM_006724666.4:c.7001C>G	XP_006724729.1:p.Ala2334Gly
XM_006724667.3:c.6839C>G	XP_006724730.1:p.Ala2280Gly
XM_017029601.2:c.7028C>G	XP_016885090.1:p.Ala2343Gly
XM_017029602.1:c.6998C>G	XP_016885091.1:p.Ala2333Gly
XM_017029603.1:c.6950C>G	XP_016885092.1:p.Ala2317Gly
XM_017029604.2:c.6917C>G	XP_016885093.1:p.Ala2306Gly
XM_017029605.1:c.6914C>G	XP_016885094.1:p.Ala2305Gly
XM_017029606.2:c.6887C>G	XP_016885095.1:p.Ala2296Gly
XM_017029607.2:c.6884C>G	XP_016885096.1:p.Ala2295Gly
XM_017029608.2:c.6836C>G	XP_016885097.1:p.Ala2279Gly
XM_017029609.1:c.6800C>G	XP_016885098.1:p.Ala2267Gly
XM_017029610.1:c.6797C>G	XP_016885099.1:p.Ala2266Gly
XM_017029611.1:c.6752C>G	XP_016885100.1:p.Ala2251Gly
XR_001755700.2:n.7417C>G
NM_138270.4:c.7004C>G	NP_612114.2:p.Ala2335Gly
NM_000489.6:c.7118C>G MANE Select	NP_000480.3:p.Ala2373Gly
NM_138270.5:c.7004C>G	NP_612114.2:p.Ala2335Gly