Canonical Allele Identifier: CA413707092

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76776305T>G (hg19) ; chrX:g.77520827T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77520827T>G , CM000685.2:g.77520827T>G	GRCh38
NC_000023.10:g.76776305T>G , CM000685.1:g.76776305T>G	GRCh37
NC_000023.9:g.76662961T>G	NCBI36
NG_008838.2:g.270395A>C
NG_008838.3:g.270443A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000373344.11:c.7161A>C MANE Select	ENSP00000362441.4:p.Arg2387Ser
ENST00000675732.1:c.2259A>C	ENSP00000502598.1:p.Arg753Ser
ENST00000373344.9:c.7161A>C	ENSP00000362441.4:p.Arg2387Ser
ENST00000395603.7:c.7047A>C	ENSP00000378967.3:p.Arg2349Ser
ENST00000480283.5:c.*6789A>C	ENSP00000480196.1:n.*6789A>C
ENST00000623706.3:n.5481A>C
ENST00000624766.1:n.392A>C
NM_000489.4:c.7161A>C	NP_000480.3:p.Arg2387Ser
NM_138270.3:c.7047A>C	NP_612114.2:p.Arg2349Ser
XM_005262153.3:c.7158A>C	XP_005262210.2:p.Arg2386Ser
XM_005262154.3:c.7074A>C	XP_005262211.2:p.Arg2358Ser
XM_005262155.3:c.7044A>C	XP_005262212.2:p.Arg2348Ser
XM_005262156.3:c.6996A>C	XP_005262213.2:p.Arg2332Ser
XM_005262157.3:c.6957A>C	XP_005262214.2:p.Arg2319Ser
XM_006724666.2:c.7044A>C	XP_006724729.1:p.Arg2348Ser
XM_006724667.2:c.6882A>C	XP_006724730.1:p.Arg2294Ser
XR_938400.1:n.8753A>C
NM_000489.5:c.7161A>C	NP_000480.3:p.Arg2387Ser
XM_005262153.5:c.7158A>C	XP_005262210.2:p.Arg2386Ser
XM_005262154.5:c.7074A>C	XP_005262211.2:p.Arg2358Ser
XM_005262155.4:c.7044A>C	XP_005262212.2:p.Arg2348Ser
XM_005262156.4:c.6996A>C	XP_005262213.2:p.Arg2332Ser
XM_005262157.5:c.6957A>C	XP_005262214.2:p.Arg2319Ser
XM_006724666.4:c.7044A>C	XP_006724729.1:p.Arg2348Ser
XM_006724667.3:c.6882A>C	XP_006724730.1:p.Arg2294Ser
XM_017029601.2:c.7071A>C	XP_016885090.1:p.Arg2357Ser
XM_017029602.1:c.7041A>C	XP_016885091.1:p.Arg2347Ser
XM_017029603.1:c.6993A>C	XP_016885092.1:p.Arg2331Ser
XM_017029604.2:c.6960A>C	XP_016885093.1:p.Arg2320Ser
XM_017029605.1:c.6957A>C	XP_016885094.1:p.Arg2319Ser
XM_017029606.2:c.6930A>C	XP_016885095.1:p.Arg2310Ser
XM_017029607.2:c.6927A>C	XP_016885096.1:p.Arg2309Ser
XM_017029608.2:c.6879A>C	XP_016885097.1:p.Arg2293Ser
XM_017029609.1:c.6843A>C	XP_016885098.1:p.Arg2281Ser
XM_017029610.1:c.6840A>C	XP_016885099.1:p.Arg2280Ser
XM_017029611.1:c.6795A>C	XP_016885100.1:p.Arg2265Ser
XR_001755700.2:n.7460A>C
NM_138270.4:c.7047A>C	NP_612114.2:p.Arg2349Ser
NM_000489.6:c.7161A>C MANE Select	NP_000480.3:p.Arg2387Ser
NM_138270.5:c.7047A>C	NP_612114.2:p.Arg2349Ser