Canonical Allele Identifier: CA413704137

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763946A>C (hg19) ; chrX:g.77508468A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508468A>C , CM000685.2:g.77508468A>C	GRCh38
NC_000023.10:g.76763946A>C , CM000685.1:g.76763946A>C	GRCh37
NC_000023.9:g.76650602A>C	NCBI36
NG_008838.2:g.282754T>G
NG_008838.3:g.282802T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7362T>G MANE Select	ENSP00000362441.4:p.Ile2454Met
ENST00000675732.1:c.2460T>G	ENSP00000502598.1:p.Ile820Met
ENST00000373344.9:c.7362T>G	ENSP00000362441.4:p.Ile2454Met
ENST00000395603.7:c.7248T>G	ENSP00000378967.3:p.Ile2416Met
ENST00000480283.5:c.*6990T>G	ENSP00000480196.1:n.*6990T>G
ENST00000623706.3:n.5682T>G
NM_000489.4:c.7362T>G	NP_000480.3:p.Ile2454Met
NM_138270.3:c.7248T>G	NP_612114.2:p.Ile2416Met
XM_005262153.3:c.7359T>G	XP_005262210.2:p.Ile2453Met
XM_005262154.3:c.7275T>G	XP_005262211.2:p.Ile2425Met
XM_005262155.3:c.7245T>G	XP_005262212.2:p.Ile2415Met
XM_005262156.3:c.7197T>G	XP_005262213.2:p.Ile2399Met
XM_005262157.3:c.7158T>G	XP_005262214.2:p.Ile2386Met
XM_006724666.2:c.7245T>G	XP_006724729.1:p.Ile2415Met
XM_006724667.2:c.7083T>G	XP_006724730.1:p.Ile2361Met
XR_938400.1:n.8954T>G
NM_000489.5:c.7362T>G	NP_000480.3:p.Ile2454Met
XM_005262153.5:c.7359T>G	XP_005262210.2:p.Ile2453Met
XM_005262154.5:c.7275T>G	XP_005262211.2:p.Ile2425Met
XM_005262155.4:c.7245T>G	XP_005262212.2:p.Ile2415Met
XM_005262156.4:c.7197T>G	XP_005262213.2:p.Ile2399Met
XM_005262157.5:c.7158T>G	XP_005262214.2:p.Ile2386Met
XM_006724666.4:c.7245T>G	XP_006724729.1:p.Ile2415Met
XM_006724667.3:c.7083T>G	XP_006724730.1:p.Ile2361Met
XM_017029601.2:c.7272T>G	XP_016885090.1:p.Ile2424Met
XM_017029602.1:c.7242T>G	XP_016885091.1:p.Ile2414Met
XM_017029603.1:c.7194T>G	XP_016885092.1:p.Ile2398Met
XM_017029604.2:c.7161T>G	XP_016885093.1:p.Ile2387Met
XM_017029605.1:c.7158T>G	XP_016885094.1:p.Ile2386Met
XM_017029606.2:c.7131T>G	XP_016885095.1:p.Ile2377Met
XM_017029607.2:c.7128T>G	XP_016885096.1:p.Ile2376Met
XM_017029608.2:c.7080T>G	XP_016885097.1:p.Ile2360Met
XM_017029609.1:c.7044T>G	XP_016885098.1:p.Ile2348Met
XM_017029610.1:c.7041T>G	XP_016885099.1:p.Ile2347Met
XM_017029611.1:c.6996T>G	XP_016885100.1:p.Ile2332Met
XR_001755700.2:n.7661T>G
NM_138270.4:c.7248T>G	NP_612114.2:p.Ile2416Met
NM_000489.6:c.7362T>G MANE Select	NP_000480.3:p.Ile2454Met
NM_138270.5:c.7248T>G	NP_612114.2:p.Ile2416Met