Canonical Allele Identifier: CA413704068

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763937T>G (hg19) ; chrX:g.77508459T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508459T>G , CM000685.2:g.77508459T>G	GRCh38
NC_000023.10:g.76763937T>G , CM000685.1:g.76763937T>G	GRCh37
NC_000023.9:g.76650593T>G	NCBI36
NG_008838.2:g.282763A>C
NG_008838.3:g.282811A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7371A>C MANE Select	ENSP00000362441.4:p.Arg2457Ser
ENST00000675732.1:c.2469A>C	ENSP00000502598.1:p.Arg823Ser
ENST00000373344.9:c.7371A>C	ENSP00000362441.4:p.Arg2457Ser
ENST00000395603.7:c.7257A>C	ENSP00000378967.3:p.Arg2419Ser
ENST00000480283.5:c.*6999A>C	ENSP00000480196.1:n.*6999A>C
ENST00000623706.3:n.5691A>C
NM_000489.4:c.7371A>C	NP_000480.3:p.Arg2457Ser
NM_138270.3:c.7257A>C	NP_612114.2:p.Arg2419Ser
XM_005262153.3:c.7368A>C	XP_005262210.2:p.Arg2456Ser
XM_005262154.3:c.7284A>C	XP_005262211.2:p.Arg2428Ser
XM_005262155.3:c.7254A>C	XP_005262212.2:p.Arg2418Ser
XM_005262156.3:c.7206A>C	XP_005262213.2:p.Arg2402Ser
XM_005262157.3:c.7167A>C	XP_005262214.2:p.Arg2389Ser
XM_006724666.2:c.7254A>C	XP_006724729.1:p.Arg2418Ser
XM_006724667.2:c.7092A>C	XP_006724730.1:p.Arg2364Ser
XR_938400.1:n.8963A>C
NM_000489.5:c.7371A>C	NP_000480.3:p.Arg2457Ser
XM_005262153.5:c.7368A>C	XP_005262210.2:p.Arg2456Ser
XM_005262154.5:c.7284A>C	XP_005262211.2:p.Arg2428Ser
XM_005262155.4:c.7254A>C	XP_005262212.2:p.Arg2418Ser
XM_005262156.4:c.7206A>C	XP_005262213.2:p.Arg2402Ser
XM_005262157.5:c.7167A>C	XP_005262214.2:p.Arg2389Ser
XM_006724666.4:c.7254A>C	XP_006724729.1:p.Arg2418Ser
XM_006724667.3:c.7092A>C	XP_006724730.1:p.Arg2364Ser
XM_017029601.2:c.7281A>C	XP_016885090.1:p.Arg2427Ser
XM_017029602.1:c.7251A>C	XP_016885091.1:p.Arg2417Ser
XM_017029603.1:c.7203A>C	XP_016885092.1:p.Arg2401Ser
XM_017029604.2:c.7170A>C	XP_016885093.1:p.Arg2390Ser
XM_017029605.1:c.7167A>C	XP_016885094.1:p.Arg2389Ser
XM_017029606.2:c.7140A>C	XP_016885095.1:p.Arg2380Ser
XM_017029607.2:c.7137A>C	XP_016885096.1:p.Arg2379Ser
XM_017029608.2:c.7089A>C	XP_016885097.1:p.Arg2363Ser
XM_017029609.1:c.7053A>C	XP_016885098.1:p.Arg2351Ser
XM_017029610.1:c.7050A>C	XP_016885099.1:p.Arg2350Ser
XM_017029611.1:c.7005A>C	XP_016885100.1:p.Arg2335Ser
XR_001755700.2:n.7670A>C
NM_138270.4:c.7257A>C	NP_612114.2:p.Arg2419Ser
NM_000489.6:c.7371A>C MANE Select	NP_000480.3:p.Arg2457Ser
NM_138270.5:c.7257A>C	NP_612114.2:p.Arg2419Ser