Canonical Allele Identifier: CA413704771

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76764026A>T (hg19) ; chrX:g.77508548A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508548A>T , CM000685.2:g.77508548A>T	GRCh38
NC_000023.10:g.76764026A>T , CM000685.1:g.76764026A>T	GRCh37
NC_000023.9:g.76650682A>T	NCBI36
NG_008838.2:g.282674T>A
NG_008838.3:g.282722T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7282T>A MANE Select	ENSP00000362441.4:p.Tyr2428Asn
ENST00000675732.1:c.2380T>A	ENSP00000502598.1:p.Tyr794Asn
ENST00000373344.9:c.7282T>A	ENSP00000362441.4:p.Tyr2428Asn
ENST00000395603.7:c.7168T>A	ENSP00000378967.3:p.Tyr2390Asn
ENST00000480283.5:c.*6910T>A	ENSP00000480196.1:n.*6910T>A
ENST00000623706.3:n.5602T>A
ENST00000624766.1:n.513T>A
NM_000489.4:c.7282T>A	NP_000480.3:p.Tyr2428Asn
NM_138270.3:c.7168T>A	NP_612114.2:p.Tyr2390Asn
XM_005262153.3:c.7279T>A	XP_005262210.2:p.Tyr2427Asn
XM_005262154.3:c.7195T>A	XP_005262211.2:p.Tyr2399Asn
XM_005262155.3:c.7165T>A	XP_005262212.2:p.Tyr2389Asn
XM_005262156.3:c.7117T>A	XP_005262213.2:p.Tyr2373Asn
XM_005262157.3:c.7078T>A	XP_005262214.2:p.Tyr2360Asn
XM_006724666.2:c.7165T>A	XP_006724729.1:p.Tyr2389Asn
XM_006724667.2:c.7003T>A	XP_006724730.1:p.Tyr2335Asn
XR_938400.1:n.8874T>A
NM_000489.5:c.7282T>A	NP_000480.3:p.Tyr2428Asn
XM_005262153.5:c.7279T>A	XP_005262210.2:p.Tyr2427Asn
XM_005262154.5:c.7195T>A	XP_005262211.2:p.Tyr2399Asn
XM_005262155.4:c.7165T>A	XP_005262212.2:p.Tyr2389Asn
XM_005262156.4:c.7117T>A	XP_005262213.2:p.Tyr2373Asn
XM_005262157.5:c.7078T>A	XP_005262214.2:p.Tyr2360Asn
XM_006724666.4:c.7165T>A	XP_006724729.1:p.Tyr2389Asn
XM_006724667.3:c.7003T>A	XP_006724730.1:p.Tyr2335Asn
XM_017029601.2:c.7192T>A	XP_016885090.1:p.Tyr2398Asn
XM_017029602.1:c.7162T>A	XP_016885091.1:p.Tyr2388Asn
XM_017029603.1:c.7114T>A	XP_016885092.1:p.Tyr2372Asn
XM_017029604.2:c.7081T>A	XP_016885093.1:p.Tyr2361Asn
XM_017029605.1:c.7078T>A	XP_016885094.1:p.Tyr2360Asn
XM_017029606.2:c.7051T>A	XP_016885095.1:p.Tyr2351Asn
XM_017029607.2:c.7048T>A	XP_016885096.1:p.Tyr2350Asn
XM_017029608.2:c.7000T>A	XP_016885097.1:p.Tyr2334Asn
XM_017029609.1:c.6964T>A	XP_016885098.1:p.Tyr2322Asn
XM_017029610.1:c.6961T>A	XP_016885099.1:p.Tyr2321Asn
XM_017029611.1:c.6916T>A	XP_016885100.1:p.Tyr2306Asn
XR_001755700.2:n.7581T>A
NM_138270.4:c.7168T>A	NP_612114.2:p.Tyr2390Asn
NM_000489.6:c.7282T>A MANE Select	NP_000480.3:p.Tyr2428Asn
NM_138270.5:c.7168T>A	NP_612114.2:p.Tyr2390Asn