Canonical Allele Identifier: CA413704142

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763947A>T (hg19) ; chrX:g.77508469A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508469A>T , CM000685.2:g.77508469A>T	GRCh38
NC_000023.10:g.76763947A>T , CM000685.1:g.76763947A>T	GRCh37
NC_000023.9:g.76650603A>T	NCBI36
NG_008838.2:g.282753T>A
NG_008838.3:g.282801T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7361T>A MANE Select	ENSP00000362441.4:p.Ile2454Asn
ENST00000675732.1:c.2459T>A	ENSP00000502598.1:p.Ile820Asn
ENST00000373344.9:c.7361T>A	ENSP00000362441.4:p.Ile2454Asn
ENST00000395603.7:c.7247T>A	ENSP00000378967.3:p.Ile2416Asn
ENST00000480283.5:c.*6989T>A	ENSP00000480196.1:n.*6989T>A
ENST00000623706.3:n.5681T>A
NM_000489.4:c.7361T>A	NP_000480.3:p.Ile2454Asn
NM_138270.3:c.7247T>A	NP_612114.2:p.Ile2416Asn
XM_005262153.3:c.7358T>A	XP_005262210.2:p.Ile2453Asn
XM_005262154.3:c.7274T>A	XP_005262211.2:p.Ile2425Asn
XM_005262155.3:c.7244T>A	XP_005262212.2:p.Ile2415Asn
XM_005262156.3:c.7196T>A	XP_005262213.2:p.Ile2399Asn
XM_005262157.3:c.7157T>A	XP_005262214.2:p.Ile2386Asn
XM_006724666.2:c.7244T>A	XP_006724729.1:p.Ile2415Asn
XM_006724667.2:c.7082T>A	XP_006724730.1:p.Ile2361Asn
XR_938400.1:n.8953T>A
NM_000489.5:c.7361T>A	NP_000480.3:p.Ile2454Asn
XM_005262153.5:c.7358T>A	XP_005262210.2:p.Ile2453Asn
XM_005262154.5:c.7274T>A	XP_005262211.2:p.Ile2425Asn
XM_005262155.4:c.7244T>A	XP_005262212.2:p.Ile2415Asn
XM_005262156.4:c.7196T>A	XP_005262213.2:p.Ile2399Asn
XM_005262157.5:c.7157T>A	XP_005262214.2:p.Ile2386Asn
XM_006724666.4:c.7244T>A	XP_006724729.1:p.Ile2415Asn
XM_006724667.3:c.7082T>A	XP_006724730.1:p.Ile2361Asn
XM_017029601.2:c.7271T>A	XP_016885090.1:p.Ile2424Asn
XM_017029602.1:c.7241T>A	XP_016885091.1:p.Ile2414Asn
XM_017029603.1:c.7193T>A	XP_016885092.1:p.Ile2398Asn
XM_017029604.2:c.7160T>A	XP_016885093.1:p.Ile2387Asn
XM_017029605.1:c.7157T>A	XP_016885094.1:p.Ile2386Asn
XM_017029606.2:c.7130T>A	XP_016885095.1:p.Ile2377Asn
XM_017029607.2:c.7127T>A	XP_016885096.1:p.Ile2376Asn
XM_017029608.2:c.7079T>A	XP_016885097.1:p.Ile2360Asn
XM_017029609.1:c.7043T>A	XP_016885098.1:p.Ile2348Asn
XM_017029610.1:c.7040T>A	XP_016885099.1:p.Ile2347Asn
XM_017029611.1:c.6995T>A	XP_016885100.1:p.Ile2332Asn
XR_001755700.2:n.7660T>A
NM_138270.4:c.7247T>A	NP_612114.2:p.Ile2416Asn
NM_000489.6:c.7361T>A MANE Select	NP_000480.3:p.Ile2454Asn
NM_138270.5:c.7247T>A	NP_612114.2:p.Ile2416Asn