Canonical Allele Identifier: CA413708272

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76907717T>G (hg19) ; chrX:g.77652227T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652227T>G , CM000685.2:g.77652227T>G	GRCh38
NC_000023.10:g.76907717T>G , CM000685.1:g.76907717T>G	GRCh37
NC_000023.9:g.76794373T>G	NCBI36
NG_008838.2:g.138995A>C
NG_008838.3:g.139043A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4444A>C MANE Select	ENSP00000362441.4:p.Lys1482Gln
ENST00000373344.9:c.4444A>C	ENSP00000362441.4:p.Lys1482Gln
ENST00000395603.7:c.4330A>C	ENSP00000378967.3:p.Lys1444Gln
ENST00000480283.5:c.*4072A>C	ENSP00000480196.1:n.*4072A>C
ENST00000623242.3:c.50A>C
NM_000489.4:c.4444A>C	NP_000480.3:p.Lys1482Gln
NM_138270.3:c.4330A>C	NP_612114.2:p.Lys1444Gln
XM_005262153.3:c.4441A>C	XP_005262210.2:p.Lys1481Gln
XM_005262154.3:c.4357A>C	XP_005262211.2:p.Lys1453Gln
XM_005262155.3:c.4327A>C	XP_005262212.2:p.Lys1443Gln
XM_005262156.3:c.4279A>C	XP_005262213.2:p.Lys1427Gln
XM_005262157.3:c.4240A>C	XP_005262214.2:p.Lys1414Gln
XM_006724666.2:c.4327A>C	XP_006724729.1:p.Lys1443Gln
XM_006724667.2:c.4165A>C	XP_006724730.1:p.Lys1389Gln
XM_006724668.2:c.4444A>C	XP_006724731.1:p.Lys1482Gln
XR_938400.1:n.4712A>C
NM_000489.5:c.4444A>C	NP_000480.3:p.Lys1482Gln
XM_005262153.5:c.4441A>C	XP_005262210.2:p.Lys1481Gln
XM_005262154.5:c.4357A>C	XP_005262211.2:p.Lys1453Gln
XM_005262155.4:c.4327A>C	XP_005262212.2:p.Lys1443Gln
XM_005262156.4:c.4279A>C	XP_005262213.2:p.Lys1427Gln
XM_005262157.5:c.4240A>C	XP_005262214.2:p.Lys1414Gln
XM_006724666.4:c.4327A>C	XP_006724729.1:p.Lys1443Gln
XM_006724667.3:c.4165A>C	XP_006724730.1:p.Lys1389Gln
XM_006724668.3:c.4444A>C	XP_006724731.1:p.Lys1482Gln
XM_017029601.2:c.4354A>C	XP_016885090.1:p.Lys1452Gln
XM_017029602.1:c.4324A>C	XP_016885091.1:p.Lys1442Gln
XM_017029603.1:c.4276A>C	XP_016885092.1:p.Lys1426Gln
XM_017029604.2:c.4243A>C	XP_016885093.1:p.Lys1415Gln
XM_017029605.1:c.4240A>C	XP_016885094.1:p.Lys1414Gln
XM_017029606.2:c.4213A>C	XP_016885095.1:p.Lys1405Gln
XM_017029607.2:c.4210A>C	XP_016885096.1:p.Lys1404Gln
XM_017029608.2:c.4162A>C	XP_016885097.1:p.Lys1388Gln
XM_017029609.1:c.4126A>C	XP_016885098.1:p.Lys1376Gln
XM_017029610.1:c.4123A>C	XP_016885099.1:p.Lys1375Gln
XM_017029611.1:c.4078A>C	XP_016885100.1:p.Lys1360Gln
XR_001755700.2:n.4669A>C
NM_138270.4:c.4330A>C	NP_612114.2:p.Lys1444Gln
NM_000489.6:c.4444A>C MANE Select	NP_000480.3:p.Lys1482Gln
NM_138270.5:c.4330A>C	NP_612114.2:p.Lys1444Gln