Canonical Allele Identifier: CA413701211

Gene: ATRX

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6248A>C MANE Select	ENSP00000362441.4:p.Tyr2083Ser
ENST00000636152.1:n.83A>C
ENST00000675732.1:c.1346A>C	ENSP00000502598.1:p.Tyr449Ser
ENST00000373344.9:c.6248A>C	ENSP00000362441.4:p.Tyr2083Ser
ENST00000395603.7:c.6134A>C	ENSP00000378967.3:p.Tyr2045Ser
ENST00000480283.5:c.*5876A>C	ENSP00000480196.1:n.*5876A>C
ENST00000623316.1:c.732A>C
ENST00000623706.3:n.3318A>C
NM_000489.4:c.6248A>C	NP_000480.3:p.Tyr2083Ser
NM_138270.3:c.6134A>C	NP_612114.2:p.Tyr2045Ser
XM_005262153.3:c.6245A>C	XP_005262210.2:p.Tyr2082Ser
XM_005262154.3:c.6161A>C	XP_005262211.2:p.Tyr2054Ser
XM_005262155.3:c.6131A>C	XP_005262212.2:p.Tyr2044Ser
XM_005262156.3:c.6083A>C	XP_005262213.2:p.Tyr2028Ser
XM_005262157.3:c.6044A>C	XP_005262214.2:p.Tyr2015Ser
XM_006724666.2:c.6131A>C	XP_006724729.1:p.Tyr2044Ser
XM_006724667.2:c.5969A>C	XP_006724730.1:p.Tyr1990Ser
XR_938400.1:n.6590A>C
NM_000489.5:c.6248A>C	NP_000480.3:p.Tyr2083Ser
XM_005262153.5:c.6245A>C	XP_005262210.2:p.Tyr2082Ser
XM_005262154.5:c.6161A>C	XP_005262211.2:p.Tyr2054Ser
XM_005262155.4:c.6131A>C	XP_005262212.2:p.Tyr2044Ser
XM_005262156.4:c.6083A>C	XP_005262213.2:p.Tyr2028Ser
XM_005262157.5:c.6044A>C	XP_005262214.2:p.Tyr2015Ser
XM_006724666.4:c.6131A>C	XP_006724729.1:p.Tyr2044Ser
XM_006724667.3:c.5969A>C	XP_006724730.1:p.Tyr1990Ser
XM_017029601.2:c.6158A>C	XP_016885090.1:p.Tyr2053Ser
XM_017029602.1:c.6128A>C	XP_016885091.1:p.Tyr2043Ser
XM_017029603.1:c.6080A>C	XP_016885092.1:p.Tyr2027Ser
XM_017029604.2:c.6047A>C	XP_016885093.1:p.Tyr2016Ser
XM_017029605.1:c.6044A>C	XP_016885094.1:p.Tyr2015Ser
XM_017029606.2:c.6017A>C	XP_016885095.1:p.Tyr2006Ser
XM_017029607.2:c.6014A>C	XP_016885096.1:p.Tyr2005Ser
XM_017029608.2:c.5966A>C	XP_016885097.1:p.Tyr1989Ser
XM_017029609.1:c.5930A>C	XP_016885098.1:p.Tyr1977Ser
XM_017029610.1:c.5927A>C	XP_016885099.1:p.Tyr1976Ser
XM_017029611.1:c.5882A>C	XP_016885100.1:p.Tyr1961Ser
XR_001755700.2:n.6547A>C
NM_138270.4:c.6134A>C	NP_612114.2:p.Tyr2045Ser
NM_000489.6:c.6248A>C MANE Select	NP_000480.3:p.Tyr2083Ser
NM_138270.5:c.6134A>C	NP_612114.2:p.Tyr2045Ser