Canonical Allele Identifier: CA517377227

Gene: ATRX

Linked Data

• ClinVar Variation Id: 1115575
• ClinVar RCV Id: RCV001443663
• dbSNP Id: rs1259166194
• gnomAD v2: X-76944344-A-G
• gnomAD v3: X-77688851-A-G
• gnomAD v4: X-77688851-A-G
• MyVariant Identifiers: chrX:g.76944344A>G (hg19) ; chrX:g.77688851A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77688851A>G , CM000685.2:g.77688851A>G	GRCh38
NC_000023.10:g.76944344A>G , CM000685.1:g.76944344A>G	GRCh37
NC_000023.9:g.76831000A>G	NCBI36
NG_008838.2:g.102371T>C
NG_008838.3:g.102419T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000373344.11:c.561T>C MANE Select	ENSP00000362441.4:p.Tyr187=
ENST00000373344.9:c.561T>C	ENSP00000362441.4:p.Tyr187=
ENST00000395603.7:c.447T>C	ENSP00000378967.3:p.Tyr149=
ENST00000480283.5:c.*189T>C	ENSP00000480196.1:n.*189T>C
ENST00000623321.3:c.396T>C	ENSP00000485127.1:p.Tyr132=
ENST00000624032.3:c.561T>C	ENSP00000485253.1:p.Tyr187=
ENST00000624166.3:c.444T>C	ENSP00000485103.1:p.Tyr148=
ENST00000624668.3:c.282T>C	ENSP00000485100.1:p.Tyr94=
ENST00000625063.3:c.376T>C
NM_000489.4:c.561T>C	NP_000480.3:p.Tyr187=
NM_138270.3:c.447T>C	NP_612114.2:p.Tyr149=
XM_005262153.3:c.558T>C	XP_005262210.2:p.Tyr186=
XM_005262154.3:c.561T>C	XP_005262211.2:p.Tyr187=
XM_005262155.3:c.444T>C	XP_005262212.2:p.Tyr148=
XM_005262156.3:c.396T>C	XP_005262213.2:p.Tyr132=
XM_005262157.3:c.444T>C	XP_005262214.2:p.Tyr148=
XM_006724666.2:c.444T>C	XP_006724729.1:p.Tyr148=
XM_006724667.2:c.282T>C	XP_006724730.1:p.Tyr94=
XM_006724668.2:c.561T>C	XP_006724731.1:p.Tyr187=
XR_938400.1:n.829T>C
NM_000489.5:c.561T>C	NP_000480.3:p.Tyr187=
XM_005262153.5:c.558T>C	XP_005262210.2:p.Tyr186=
XM_005262154.5:c.561T>C	XP_005262211.2:p.Tyr187=
XM_005262155.4:c.444T>C	XP_005262212.2:p.Tyr148=
XM_005262156.4:c.396T>C	XP_005262213.2:p.Tyr132=
XM_005262157.5:c.444T>C	XP_005262214.2:p.Tyr148=
XM_006724666.4:c.444T>C	XP_006724729.1:p.Tyr148=
XM_006724667.3:c.282T>C	XP_006724730.1:p.Tyr94=
XM_006724668.3:c.561T>C	XP_006724731.1:p.Tyr187=
XM_017029601.2:c.558T>C	XP_016885090.1:p.Tyr186=
XM_017029602.1:c.441T>C	XP_016885091.1:p.Tyr147=
XM_017029603.1:c.393T>C	XP_016885092.1:p.Tyr131=
XM_017029604.2:c.447T>C	XP_016885093.1:p.Tyr149=
XM_017029605.1:c.444T>C	XP_016885094.1:p.Tyr148=
XM_017029606.2:c.330T>C	XP_016885095.1:p.Tyr110=
XM_017029607.2:c.327T>C	XP_016885096.1:p.Tyr109=
XM_017029608.2:c.279T>C	XP_016885097.1:p.Tyr93=
XM_017029609.1:c.330T>C	XP_016885098.1:p.Tyr110=
XM_017029610.1:c.327T>C	XP_016885099.1:p.Tyr109=
XM_017029611.1:c.282T>C	XP_016885100.1:p.Tyr94=
XR_001755700.2:n.786T>C
NM_138270.4:c.447T>C	NP_612114.2:p.Tyr149=
NM_000489.6:c.561T>C MANE Select	NP_000480.3:p.Tyr187=
NM_138270.5:c.447T>C	NP_612114.2:p.Tyr149=