Canonical Allele Identifier: CA517471517

Gene: ATRX

Linked Data

• dbSNP Id: rs2148440594
• gnomAD v4: X-77652345-A-G
• MyVariant Identifiers: chrX:g.76907835A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652345A>G , CM000685.2:g.77652345A>G	GRCh38
NC_000023.10:g.76907835A>G , CM000685.1:g.76907835A>G	GRCh37
NC_000023.9:g.76794491A>G	NCBI36
NG_008838.2:g.138877T>C
NG_008838.3:g.138925T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4326T>C MANE Select	ENSP00000362441.4:p.Ser1442=
ENST00000373344.9:c.4326T>C	ENSP00000362441.4:p.Ser1442=
ENST00000395603.7:c.4212T>C	ENSP00000378967.3:p.Ser1404=
ENST00000480283.5:c.*3954T>C	ENSP00000480196.1:n.*3954T>C
NM_000489.4:c.4326T>C	NP_000480.3:p.Ser1442=
NM_138270.3:c.4212T>C	NP_612114.2:p.Ser1404=
XM_005262153.3:c.4323T>C	XP_005262210.2:p.Ser1441=
XM_005262154.3:c.4239T>C	XP_005262211.2:p.Ser1413=
XM_005262155.3:c.4209T>C	XP_005262212.2:p.Ser1403=
XM_005262156.3:c.4161T>C	XP_005262213.2:p.Ser1387=
XM_005262157.3:c.4122T>C	XP_005262214.2:p.Ser1374=
XM_006724666.2:c.4209T>C	XP_006724729.1:p.Ser1403=
XM_006724667.2:c.4047T>C	XP_006724730.1:p.Ser1349=
XM_006724668.2:c.4326T>C	XP_006724731.1:p.Ser1442=
XR_938400.1:n.4594T>C
NM_000489.5:c.4326T>C	NP_000480.3:p.Ser1442=
XM_005262153.5:c.4323T>C	XP_005262210.2:p.Ser1441=
XM_005262154.5:c.4239T>C	XP_005262211.2:p.Ser1413=
XM_005262155.4:c.4209T>C	XP_005262212.2:p.Ser1403=
XM_005262156.4:c.4161T>C	XP_005262213.2:p.Ser1387=
XM_005262157.5:c.4122T>C	XP_005262214.2:p.Ser1374=
XM_006724666.4:c.4209T>C	XP_006724729.1:p.Ser1403=
XM_006724667.3:c.4047T>C	XP_006724730.1:p.Ser1349=
XM_006724668.3:c.4326T>C	XP_006724731.1:p.Ser1442=
XM_017029601.2:c.4236T>C	XP_016885090.1:p.Ser1412=
XM_017029602.1:c.4206T>C	XP_016885091.1:p.Ser1402=
XM_017029603.1:c.4158T>C	XP_016885092.1:p.Ser1386=
XM_017029604.2:c.4125T>C	XP_016885093.1:p.Ser1375=
XM_017029605.1:c.4122T>C	XP_016885094.1:p.Ser1374=
XM_017029606.2:c.4095T>C	XP_016885095.1:p.Ser1365=
XM_017029607.2:c.4092T>C	XP_016885096.1:p.Ser1364=
XM_017029608.2:c.4044T>C	XP_016885097.1:p.Ser1348=
XM_017029609.1:c.4008T>C	XP_016885098.1:p.Ser1336=
XM_017029610.1:c.4005T>C	XP_016885099.1:p.Ser1335=
XM_017029611.1:c.3960T>C	XP_016885100.1:p.Ser1320=
XR_001755700.2:n.4551T>C
NM_138270.4:c.4212T>C	NP_612114.2:p.Ser1404=
NM_000489.6:c.4326T>C MANE Select	NP_000480.3:p.Ser1442=
NM_138270.5:c.4212T>C	NP_612114.2:p.Ser1404=