Canonical Allele Identifier: CA413708261

Gene: ATRX

Linked Data

• dbSNP Id: rs2148437545
• MyVariant Identifiers: chrX:g.76907715C>G (hg19) ; chrX:g.77652225C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652225C>G , CM000685.2:g.77652225C>G	GRCh38
NC_000023.10:g.76907715C>G , CM000685.1:g.76907715C>G	GRCh37
NC_000023.9:g.76794371C>G	NCBI36
NG_008838.2:g.138997G>C
NG_008838.3:g.139045G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4446G>C MANE Select	ENSP00000362441.4:p.Lys1482Asn
ENST00000373344.9:c.4446G>C	ENSP00000362441.4:p.Lys1482Asn
ENST00000395603.7:c.4332G>C	ENSP00000378967.3:p.Lys1444Asn
ENST00000480283.5:c.*4074G>C	ENSP00000480196.1:n.*4074G>C
ENST00000623242.3:c.52G>C
NM_000489.4:c.4446G>C	NP_000480.3:p.Lys1482Asn
NM_138270.3:c.4332G>C	NP_612114.2:p.Lys1444Asn
XM_005262153.3:c.4443G>C	XP_005262210.2:p.Lys1481Asn
XM_005262154.3:c.4359G>C	XP_005262211.2:p.Lys1453Asn
XM_005262155.3:c.4329G>C	XP_005262212.2:p.Lys1443Asn
XM_005262156.3:c.4281G>C	XP_005262213.2:p.Lys1427Asn
XM_005262157.3:c.4242G>C	XP_005262214.2:p.Lys1414Asn
XM_006724666.2:c.4329G>C	XP_006724729.1:p.Lys1443Asn
XM_006724667.2:c.4167G>C	XP_006724730.1:p.Lys1389Asn
XM_006724668.2:c.4446G>C	XP_006724731.1:p.Lys1482Asn
XR_938400.1:n.4714G>C
NM_000489.5:c.4446G>C	NP_000480.3:p.Lys1482Asn
XM_005262153.5:c.4443G>C	XP_005262210.2:p.Lys1481Asn
XM_005262154.5:c.4359G>C	XP_005262211.2:p.Lys1453Asn
XM_005262155.4:c.4329G>C	XP_005262212.2:p.Lys1443Asn
XM_005262156.4:c.4281G>C	XP_005262213.2:p.Lys1427Asn
XM_005262157.5:c.4242G>C	XP_005262214.2:p.Lys1414Asn
XM_006724666.4:c.4329G>C	XP_006724729.1:p.Lys1443Asn
XM_006724667.3:c.4167G>C	XP_006724730.1:p.Lys1389Asn
XM_006724668.3:c.4446G>C	XP_006724731.1:p.Lys1482Asn
XM_017029601.2:c.4356G>C	XP_016885090.1:p.Lys1452Asn
XM_017029602.1:c.4326G>C	XP_016885091.1:p.Lys1442Asn
XM_017029603.1:c.4278G>C	XP_016885092.1:p.Lys1426Asn
XM_017029604.2:c.4245G>C	XP_016885093.1:p.Lys1415Asn
XM_017029605.1:c.4242G>C	XP_016885094.1:p.Lys1414Asn
XM_017029606.2:c.4215G>C	XP_016885095.1:p.Lys1405Asn
XM_017029607.2:c.4212G>C	XP_016885096.1:p.Lys1404Asn
XM_017029608.2:c.4164G>C	XP_016885097.1:p.Lys1388Asn
XM_017029609.1:c.4128G>C	XP_016885098.1:p.Lys1376Asn
XM_017029610.1:c.4125G>C	XP_016885099.1:p.Lys1375Asn
XM_017029611.1:c.4080G>C	XP_016885100.1:p.Lys1360Asn
XR_001755700.2:n.4671G>C
NM_138270.4:c.4332G>C	NP_612114.2:p.Lys1444Asn
NM_000489.6:c.4446G>C MANE Select	NP_000480.3:p.Lys1482Asn
NM_138270.5:c.4332G>C	NP_612114.2:p.Lys1444Asn