Canonical Allele Identifier: CA413708405

Gene: ATRX

Linked Data

• dbSNP Id: rs2148438269
• MyVariant Identifiers: chrX:g.76907744G>C (hg19) ; chrX:g.77652254G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652254G>C , CM000685.2:g.77652254G>C	GRCh38
NC_000023.10:g.76907744G>C , CM000685.1:g.76907744G>C	GRCh37
NC_000023.9:g.76794400G>C	NCBI36
NG_008838.2:g.138968C>G
NG_008838.3:g.139016C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4417C>G MANE Select	ENSP00000362441.4:p.Pro1473Ala
ENST00000373344.9:c.4417C>G	ENSP00000362441.4:p.Pro1473Ala
ENST00000395603.7:c.4303C>G	ENSP00000378967.3:p.Pro1435Ala
ENST00000480283.5:c.*4045C>G	ENSP00000480196.1:n.*4045C>G
ENST00000623242.3:c.23C>G
NM_000489.4:c.4417C>G	NP_000480.3:p.Pro1473Ala
NM_138270.3:c.4303C>G	NP_612114.2:p.Pro1435Ala
XM_005262153.3:c.4414C>G	XP_005262210.2:p.Pro1472Ala
XM_005262154.3:c.4330C>G	XP_005262211.2:p.Pro1444Ala
XM_005262155.3:c.4300C>G	XP_005262212.2:p.Pro1434Ala
XM_005262156.3:c.4252C>G	XP_005262213.2:p.Pro1418Ala
XM_005262157.3:c.4213C>G	XP_005262214.2:p.Pro1405Ala
XM_006724666.2:c.4300C>G	XP_006724729.1:p.Pro1434Ala
XM_006724667.2:c.4138C>G	XP_006724730.1:p.Pro1380Ala
XM_006724668.2:c.4417C>G	XP_006724731.1:p.Pro1473Ala
XR_938400.1:n.4685C>G
NM_000489.5:c.4417C>G	NP_000480.3:p.Pro1473Ala
XM_005262153.5:c.4414C>G	XP_005262210.2:p.Pro1472Ala
XM_005262154.5:c.4330C>G	XP_005262211.2:p.Pro1444Ala
XM_005262155.4:c.4300C>G	XP_005262212.2:p.Pro1434Ala
XM_005262156.4:c.4252C>G	XP_005262213.2:p.Pro1418Ala
XM_005262157.5:c.4213C>G	XP_005262214.2:p.Pro1405Ala
XM_006724666.4:c.4300C>G	XP_006724729.1:p.Pro1434Ala
XM_006724667.3:c.4138C>G	XP_006724730.1:p.Pro1380Ala
XM_006724668.3:c.4417C>G	XP_006724731.1:p.Pro1473Ala
XM_017029601.2:c.4327C>G	XP_016885090.1:p.Pro1443Ala
XM_017029602.1:c.4297C>G	XP_016885091.1:p.Pro1433Ala
XM_017029603.1:c.4249C>G	XP_016885092.1:p.Pro1417Ala
XM_017029604.2:c.4216C>G	XP_016885093.1:p.Pro1406Ala
XM_017029605.1:c.4213C>G	XP_016885094.1:p.Pro1405Ala
XM_017029606.2:c.4186C>G	XP_016885095.1:p.Pro1396Ala
XM_017029607.2:c.4183C>G	XP_016885096.1:p.Pro1395Ala
XM_017029608.2:c.4135C>G	XP_016885097.1:p.Pro1379Ala
XM_017029609.1:c.4099C>G	XP_016885098.1:p.Pro1367Ala
XM_017029610.1:c.4096C>G	XP_016885099.1:p.Pro1366Ala
XM_017029611.1:c.4051C>G	XP_016885100.1:p.Pro1351Ala
XR_001755700.2:n.4642C>G
NM_138270.4:c.4303C>G	NP_612114.2:p.Pro1435Ala
NM_000489.6:c.4417C>G MANE Select	NP_000480.3:p.Pro1473Ala
NM_138270.5:c.4303C>G	NP_612114.2:p.Pro1435Ala