Canonical Allele Identifier: CA413701213

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76829794A>C (hg19) ; chrX:g.77574329A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574329A>C , CM000685.2:g.77574329A>C	GRCh38
NC_000023.10:g.76829794A>C , CM000685.1:g.76829794A>C	GRCh37
NC_000023.9:g.76716450A>C	NCBI36
NG_008838.2:g.216893T>G
NG_008838.3:g.216941T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000373344.11:c.6247T>G MANE Select	ENSP00000362441.4:p.Tyr2083Asp
ENST00000636152.1:n.82T>G
ENST00000675732.1:c.1345T>G	ENSP00000502598.1:p.Tyr449Asp
ENST00000373344.9:c.6247T>G	ENSP00000362441.4:p.Tyr2083Asp
ENST00000395603.7:c.6133T>G	ENSP00000378967.3:p.Tyr2045Asp
ENST00000480283.5:c.*5875T>G	ENSP00000480196.1:n.*5875T>G
ENST00000623316.1:c.731T>G
ENST00000623706.3:n.3317T>G
NM_000489.4:c.6247T>G	NP_000480.3:p.Tyr2083Asp
NM_138270.3:c.6133T>G	NP_612114.2:p.Tyr2045Asp
XM_005262153.3:c.6244T>G	XP_005262210.2:p.Tyr2082Asp
XM_005262154.3:c.6160T>G	XP_005262211.2:p.Tyr2054Asp
XM_005262155.3:c.6130T>G	XP_005262212.2:p.Tyr2044Asp
XM_005262156.3:c.6082T>G	XP_005262213.2:p.Tyr2028Asp
XM_005262157.3:c.6043T>G	XP_005262214.2:p.Tyr2015Asp
XM_006724666.2:c.6130T>G	XP_006724729.1:p.Tyr2044Asp
XM_006724667.2:c.5968T>G	XP_006724730.1:p.Tyr1990Asp
XR_938400.1:n.6589T>G
NM_000489.5:c.6247T>G	NP_000480.3:p.Tyr2083Asp
XM_005262153.5:c.6244T>G	XP_005262210.2:p.Tyr2082Asp
XM_005262154.5:c.6160T>G	XP_005262211.2:p.Tyr2054Asp
XM_005262155.4:c.6130T>G	XP_005262212.2:p.Tyr2044Asp
XM_005262156.4:c.6082T>G	XP_005262213.2:p.Tyr2028Asp
XM_005262157.5:c.6043T>G	XP_005262214.2:p.Tyr2015Asp
XM_006724666.4:c.6130T>G	XP_006724729.1:p.Tyr2044Asp
XM_006724667.3:c.5968T>G	XP_006724730.1:p.Tyr1990Asp
XM_017029601.2:c.6157T>G	XP_016885090.1:p.Tyr2053Asp
XM_017029602.1:c.6127T>G	XP_016885091.1:p.Tyr2043Asp
XM_017029603.1:c.6079T>G	XP_016885092.1:p.Tyr2027Asp
XM_017029604.2:c.6046T>G	XP_016885093.1:p.Tyr2016Asp
XM_017029605.1:c.6043T>G	XP_016885094.1:p.Tyr2015Asp
XM_017029606.2:c.6016T>G	XP_016885095.1:p.Tyr2006Asp
XM_017029607.2:c.6013T>G	XP_016885096.1:p.Tyr2005Asp
XM_017029608.2:c.5965T>G	XP_016885097.1:p.Tyr1989Asp
XM_017029609.1:c.5929T>G	XP_016885098.1:p.Tyr1977Asp
XM_017029610.1:c.5926T>G	XP_016885099.1:p.Tyr1976Asp
XM_017029611.1:c.5881T>G	XP_016885100.1:p.Tyr1961Asp
XR_001755700.2:n.6546T>G
NM_138270.4:c.6133T>G	NP_612114.2:p.Tyr2045Asp
NM_000489.6:c.6247T>G MANE Select	NP_000480.3:p.Tyr2083Asp
NM_138270.5:c.6133T>G	NP_612114.2:p.Tyr2045Asp