Canonical Allele Identifier: CA413704345

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763974A>C (hg19) ; chrX:g.77508496A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508496A>C , CM000685.2:g.77508496A>C	GRCh38
NC_000023.10:g.76763974A>C , CM000685.1:g.76763974A>C	GRCh37
NC_000023.9:g.76650630A>C	NCBI36
NG_008838.2:g.282726T>G
NG_008838.3:g.282774T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7334T>G MANE Select	ENSP00000362441.4:p.Ile2445Ser
ENST00000675732.1:c.2432T>G	ENSP00000502598.1:p.Ile811Ser
ENST00000373344.9:c.7334T>G	ENSP00000362441.4:p.Ile2445Ser
ENST00000395603.7:c.7220T>G	ENSP00000378967.3:p.Ile2407Ser
ENST00000480283.5:c.*6962T>G	ENSP00000480196.1:n.*6962T>G
ENST00000623706.3:n.5654T>G
ENST00000624766.1:n.565T>G
NM_000489.4:c.7334T>G	NP_000480.3:p.Ile2445Ser
NM_138270.3:c.7220T>G	NP_612114.2:p.Ile2407Ser
XM_005262153.3:c.7331T>G	XP_005262210.2:p.Ile2444Ser
XM_005262154.3:c.7247T>G	XP_005262211.2:p.Ile2416Ser
XM_005262155.3:c.7217T>G	XP_005262212.2:p.Ile2406Ser
XM_005262156.3:c.7169T>G	XP_005262213.2:p.Ile2390Ser
XM_005262157.3:c.7130T>G	XP_005262214.2:p.Ile2377Ser
XM_006724666.2:c.7217T>G	XP_006724729.1:p.Ile2406Ser
XM_006724667.2:c.7055T>G	XP_006724730.1:p.Ile2352Ser
XR_938400.1:n.8926T>G
NM_000489.5:c.7334T>G	NP_000480.3:p.Ile2445Ser
XM_005262153.5:c.7331T>G	XP_005262210.2:p.Ile2444Ser
XM_005262154.5:c.7247T>G	XP_005262211.2:p.Ile2416Ser
XM_005262155.4:c.7217T>G	XP_005262212.2:p.Ile2406Ser
XM_005262156.4:c.7169T>G	XP_005262213.2:p.Ile2390Ser
XM_005262157.5:c.7130T>G	XP_005262214.2:p.Ile2377Ser
XM_006724666.4:c.7217T>G	XP_006724729.1:p.Ile2406Ser
XM_006724667.3:c.7055T>G	XP_006724730.1:p.Ile2352Ser
XM_017029601.2:c.7244T>G	XP_016885090.1:p.Ile2415Ser
XM_017029602.1:c.7214T>G	XP_016885091.1:p.Ile2405Ser
XM_017029603.1:c.7166T>G	XP_016885092.1:p.Ile2389Ser
XM_017029604.2:c.7133T>G	XP_016885093.1:p.Ile2378Ser
XM_017029605.1:c.7130T>G	XP_016885094.1:p.Ile2377Ser
XM_017029606.2:c.7103T>G	XP_016885095.1:p.Ile2368Ser
XM_017029607.2:c.7100T>G	XP_016885096.1:p.Ile2367Ser
XM_017029608.2:c.7052T>G	XP_016885097.1:p.Ile2351Ser
XM_017029609.1:c.7016T>G	XP_016885098.1:p.Ile2339Ser
XM_017029610.1:c.7013T>G	XP_016885099.1:p.Ile2338Ser
XM_017029611.1:c.6968T>G	XP_016885100.1:p.Ile2323Ser
XR_001755700.2:n.7633T>G
NM_138270.4:c.7220T>G	NP_612114.2:p.Ile2407Ser
NM_000489.6:c.7334T>G MANE Select	NP_000480.3:p.Ile2445Ser
NM_138270.5:c.7220T>G	NP_612114.2:p.Ile2407Ser