Canonical Allele Identifier: CA413704147

Gene: ATRX

Linked Data

• gnomAD v4: X-77508470-T-C
• MyVariant Identifiers: chrX:g.76763948T>C (hg19) ; chrX:g.77508470T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508470T>C , CM000685.2:g.77508470T>C	GRCh38
NC_000023.10:g.76763948T>C , CM000685.1:g.76763948T>C	GRCh37
NC_000023.9:g.76650604T>C	NCBI36
NG_008838.2:g.282752A>G
NG_008838.3:g.282800A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7360A>G MANE Select	ENSP00000362441.4:p.Ile2454Val
ENST00000675732.1:c.2458A>G	ENSP00000502598.1:p.Ile820Val
ENST00000373344.9:c.7360A>G	ENSP00000362441.4:p.Ile2454Val
ENST00000395603.7:c.7246A>G	ENSP00000378967.3:p.Ile2416Val
ENST00000480283.5:c.*6988A>G	ENSP00000480196.1:n.*6988A>G
ENST00000623706.3:n.5680A>G
NM_000489.4:c.7360A>G	NP_000480.3:p.Ile2454Val
NM_138270.3:c.7246A>G	NP_612114.2:p.Ile2416Val
XM_005262153.3:c.7357A>G	XP_005262210.2:p.Ile2453Val
XM_005262154.3:c.7273A>G	XP_005262211.2:p.Ile2425Val
XM_005262155.3:c.7243A>G	XP_005262212.2:p.Ile2415Val
XM_005262156.3:c.7195A>G	XP_005262213.2:p.Ile2399Val
XM_005262157.3:c.7156A>G	XP_005262214.2:p.Ile2386Val
XM_006724666.2:c.7243A>G	XP_006724729.1:p.Ile2415Val
XM_006724667.2:c.7081A>G	XP_006724730.1:p.Ile2361Val
XR_938400.1:n.8952A>G
NM_000489.5:c.7360A>G	NP_000480.3:p.Ile2454Val
XM_005262153.5:c.7357A>G	XP_005262210.2:p.Ile2453Val
XM_005262154.5:c.7273A>G	XP_005262211.2:p.Ile2425Val
XM_005262155.4:c.7243A>G	XP_005262212.2:p.Ile2415Val
XM_005262156.4:c.7195A>G	XP_005262213.2:p.Ile2399Val
XM_005262157.5:c.7156A>G	XP_005262214.2:p.Ile2386Val
XM_006724666.4:c.7243A>G	XP_006724729.1:p.Ile2415Val
XM_006724667.3:c.7081A>G	XP_006724730.1:p.Ile2361Val
XM_017029601.2:c.7270A>G	XP_016885090.1:p.Ile2424Val
XM_017029602.1:c.7240A>G	XP_016885091.1:p.Ile2414Val
XM_017029603.1:c.7192A>G	XP_016885092.1:p.Ile2398Val
XM_017029604.2:c.7159A>G	XP_016885093.1:p.Ile2387Val
XM_017029605.1:c.7156A>G	XP_016885094.1:p.Ile2386Val
XM_017029606.2:c.7129A>G	XP_016885095.1:p.Ile2377Val
XM_017029607.2:c.7126A>G	XP_016885096.1:p.Ile2376Val
XM_017029608.2:c.7078A>G	XP_016885097.1:p.Ile2360Val
XM_017029609.1:c.7042A>G	XP_016885098.1:p.Ile2348Val
XM_017029610.1:c.7039A>G	XP_016885099.1:p.Ile2347Val
XM_017029611.1:c.6994A>G	XP_016885100.1:p.Ile2332Val
XR_001755700.2:n.7659A>G
NM_138270.4:c.7246A>G	NP_612114.2:p.Ile2416Val
NM_000489.6:c.7360A>G MANE Select	NP_000480.3:p.Ile2454Val
NM_138270.5:c.7246A>G	NP_612114.2:p.Ile2416Val