Canonical Allele Identifier: CA2438976990

Gene: ATRX

Linked Data

• ClinVar Variation Id: 1132991
• ClinVar RCV Id: RCV001467412
• dbSNP Id: rs1557117484

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652357C>T , CM000685.2:g.77652357C>T	GRCh38
NC_000023.10:g.76907847C>T , CM000685.1:g.76907847C>T	GRCh37
NC_000023.9:g.76794503C>T	NCBI36
NG_008838.2:g.138865G>A
NG_008838.3:g.138913G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4318-4G>A MANE Select	ENSP00000362441.4:n.4318-4G>A
ENST00000373344.9:c.4318-4G>A	ENSP00000362441.4:n.4318-4G>A
ENST00000395603.7:c.4204-4G>A	ENSP00000378967.3:n.4204-4G>A
ENST00000480283.5:c.*3946-4G>A	ENSP00000480196.1:n.*3946-4G>A
NM_000489.4:c.4318-4G>A	NP_000480.3:n.4318-4G>A
NM_138270.3:c.4204-4G>A	NP_612114.2:n.4204-4G>A
XM_005262153.3:c.4315-4G>A	XP_005262210.2:n.4315-4G>A
XM_005262154.3:c.4231-4G>A	XP_005262211.2:n.4231-4G>A
XM_005262155.3:c.4201-4G>A	XP_005262212.2:n.4201-4G>A
XM_005262156.3:c.4153-4G>A	XP_005262213.2:n.4153-4G>A
XM_005262157.3:c.4114-4G>A	XP_005262214.2:n.4114-4G>A
XM_006724666.2:c.4201-4G>A	XP_006724729.1:n.4201-4G>A
XM_006724667.2:c.4039-4G>A	XP_006724730.1:n.4039-4G>A
XM_006724668.2:c.4318-4G>A	XP_006724731.1:n.4318-4G>A
XR_938400.1:n.4586-4G>A
NM_000489.5:c.4318-4G>A	NP_000480.3:n.4318-4G>A
XM_005262153.5:c.4315-4G>A	XP_005262210.2:n.4315-4G>A
XM_005262154.5:c.4231-4G>A	XP_005262211.2:n.4231-4G>A
XM_005262155.4:c.4201-4G>A	XP_005262212.2:n.4201-4G>A
XM_005262156.4:c.4153-4G>A	XP_005262213.2:n.4153-4G>A
XM_005262157.5:c.4114-4G>A	XP_005262214.2:n.4114-4G>A
XM_006724666.4:c.4201-4G>A	XP_006724729.1:n.4201-4G>A
XM_006724667.3:c.4039-4G>A	XP_006724730.1:n.4039-4G>A
XM_006724668.3:c.4318-4G>A	XP_006724731.1:n.4318-4G>A
XM_017029601.2:c.4228-4G>A	XP_016885090.1:n.4228-4G>A
XM_017029602.1:c.4198-4G>A	XP_016885091.1:n.4198-4G>A
XM_017029603.1:c.4150-4G>A	XP_016885092.1:n.4150-4G>A
XM_017029604.2:c.4117-4G>A	XP_016885093.1:n.4117-4G>A
XM_017029605.1:c.4114-4G>A	XP_016885094.1:n.4114-4G>A
XM_017029606.2:c.4087-4G>A	XP_016885095.1:n.4087-4G>A
XM_017029607.2:c.4084-4G>A	XP_016885096.1:n.4084-4G>A
XM_017029608.2:c.4036-4G>A	XP_016885097.1:n.4036-4G>A
XM_017029609.1:c.4000-4G>A	XP_016885098.1:n.4000-4G>A
XM_017029610.1:c.3997-4G>A	XP_016885099.1:n.3997-4G>A
XM_017029611.1:c.3952-4G>A	XP_016885100.1:n.3952-4G>A
XR_001755700.2:n.4543-4G>A
NM_138270.4:c.4204-4G>A	NP_612114.2:n.4204-4G>A
NM_000489.6:c.4318-4G>A MANE Select	NP_000480.3:n.4318-4G>A
NM_138270.5:c.4204-4G>A	NP_612114.2:n.4204-4G>A