Canonical Allele Identifier: CA413701200

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76829793T>A (hg19) ; chrX:g.77574328T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574328T>A , CM000685.2:g.77574328T>A	GRCh38
NC_000023.10:g.76829793T>A , CM000685.1:g.76829793T>A	GRCh37
NC_000023.9:g.76716449T>A	NCBI36
NG_008838.2:g.216894A>T
NG_008838.3:g.216942A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6248A>T MANE Select	ENSP00000362441.4:p.Tyr2083Phe
ENST00000636152.1:n.83A>T
ENST00000675732.1:c.1346A>T	ENSP00000502598.1:p.Tyr449Phe
ENST00000373344.9:c.6248A>T	ENSP00000362441.4:p.Tyr2083Phe
ENST00000395603.7:c.6134A>T	ENSP00000378967.3:p.Tyr2045Phe
ENST00000480283.5:c.*5876A>T	ENSP00000480196.1:n.*5876A>T
ENST00000623316.1:c.732A>T
ENST00000623706.3:n.3318A>T
NM_000489.4:c.6248A>T	NP_000480.3:p.Tyr2083Phe
NM_138270.3:c.6134A>T	NP_612114.2:p.Tyr2045Phe
XM_005262153.3:c.6245A>T	XP_005262210.2:p.Tyr2082Phe
XM_005262154.3:c.6161A>T	XP_005262211.2:p.Tyr2054Phe
XM_005262155.3:c.6131A>T	XP_005262212.2:p.Tyr2044Phe
XM_005262156.3:c.6083A>T	XP_005262213.2:p.Tyr2028Phe
XM_005262157.3:c.6044A>T	XP_005262214.2:p.Tyr2015Phe
XM_006724666.2:c.6131A>T	XP_006724729.1:p.Tyr2044Phe
XM_006724667.2:c.5969A>T	XP_006724730.1:p.Tyr1990Phe
XR_938400.1:n.6590A>T
NM_000489.5:c.6248A>T	NP_000480.3:p.Tyr2083Phe
XM_005262153.5:c.6245A>T	XP_005262210.2:p.Tyr2082Phe
XM_005262154.5:c.6161A>T	XP_005262211.2:p.Tyr2054Phe
XM_005262155.4:c.6131A>T	XP_005262212.2:p.Tyr2044Phe
XM_005262156.4:c.6083A>T	XP_005262213.2:p.Tyr2028Phe
XM_005262157.5:c.6044A>T	XP_005262214.2:p.Tyr2015Phe
XM_006724666.4:c.6131A>T	XP_006724729.1:p.Tyr2044Phe
XM_006724667.3:c.5969A>T	XP_006724730.1:p.Tyr1990Phe
XM_017029601.2:c.6158A>T	XP_016885090.1:p.Tyr2053Phe
XM_017029602.1:c.6128A>T	XP_016885091.1:p.Tyr2043Phe
XM_017029603.1:c.6080A>T	XP_016885092.1:p.Tyr2027Phe
XM_017029604.2:c.6047A>T	XP_016885093.1:p.Tyr2016Phe
XM_017029605.1:c.6044A>T	XP_016885094.1:p.Tyr2015Phe
XM_017029606.2:c.6017A>T	XP_016885095.1:p.Tyr2006Phe
XM_017029607.2:c.6014A>T	XP_016885096.1:p.Tyr2005Phe
XM_017029608.2:c.5966A>T	XP_016885097.1:p.Tyr1989Phe
XM_017029609.1:c.5930A>T	XP_016885098.1:p.Tyr1977Phe
XM_017029610.1:c.5927A>T	XP_016885099.1:p.Tyr1976Phe
XM_017029611.1:c.5882A>T	XP_016885100.1:p.Tyr1961Phe
XR_001755700.2:n.6547A>T
NM_138270.4:c.6134A>T	NP_612114.2:p.Tyr2045Phe
NM_000489.6:c.6248A>T MANE Select	NP_000480.3:p.Tyr2083Phe
NM_138270.5:c.6134A>T	NP_612114.2:p.Tyr2045Phe