Canonical Allele Identifier: CA220997

Gene: ATRX

Linked Data

• ClinVar Variation Id: 93142
• ClinVar RCV Id: RCV000078967 ; RCV000559903 ; RCV001610357 ; RCV003224136 ; RCV002316224
• dbSNP Id: rs188831993
• ExAC: X:76944335 A / C
• gnomAD v2: X-76944335-A-C
• gnomAD v3: X-77688842-A-C
• gnomAD v4: X-77688842-A-C
• MyVariant Identifiers: chrX:g.76944335A>C (hg19) ; chrX:g.77688842A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77688842A>C , CM000685.2:g.77688842A>C	GRCh38
NC_000023.10:g.76944335A>C , CM000685.1:g.76944335A>C	GRCh37
NC_000023.9:g.76830991A>C	NCBI36
NG_008838.2:g.102380T>G
NG_008838.3:g.102428T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.570T>G MANE Select	ENSP00000362441.4:p.Pro190=
ENST00000373344.9:c.570T>G	ENSP00000362441.4:p.Pro190=
ENST00000395603.7:c.456T>G	ENSP00000378967.3:p.Pro152=
ENST00000480283.5:c.*198T>G	ENSP00000480196.1:n.*198T>G
ENST00000623321.3:c.405T>G	ENSP00000485127.1:p.Pro135=
ENST00000624032.3:c.570T>G	ENSP00000485253.1:p.Pro190=
ENST00000624166.3:c.453T>G	ENSP00000485103.1:p.Pro151=
ENST00000624668.3:c.291T>G	ENSP00000485100.1:p.Pro97=
ENST00000625063.3:c.385T>G
NM_000489.4:c.570T>G	NP_000480.3:p.Pro190=
NM_138270.3:c.456T>G	NP_612114.2:p.Pro152=
XM_005262153.3:c.567T>G	XP_005262210.2:p.Pro189=
XM_005262154.3:c.570T>G	XP_005262211.2:p.Pro190=
XM_005262155.3:c.453T>G	XP_005262212.2:p.Pro151=
XM_005262156.3:c.405T>G	XP_005262213.2:p.Pro135=
XM_005262157.3:c.453T>G	XP_005262214.2:p.Pro151=
XM_006724666.2:c.453T>G	XP_006724729.1:p.Pro151=
XM_006724667.2:c.291T>G	XP_006724730.1:p.Pro97=
XM_006724668.2:c.570T>G	XP_006724731.1:p.Pro190=
XR_938400.1:n.838T>G
NM_000489.5:c.570T>G	NP_000480.3:p.Pro190=
XM_005262153.5:c.567T>G	XP_005262210.2:p.Pro189=
XM_005262154.5:c.570T>G	XP_005262211.2:p.Pro190=
XM_005262155.4:c.453T>G	XP_005262212.2:p.Pro151=
XM_005262156.4:c.405T>G	XP_005262213.2:p.Pro135=
XM_005262157.5:c.453T>G	XP_005262214.2:p.Pro151=
XM_006724666.4:c.453T>G	XP_006724729.1:p.Pro151=
XM_006724667.3:c.291T>G	XP_006724730.1:p.Pro97=
XM_006724668.3:c.570T>G	XP_006724731.1:p.Pro190=
XM_017029601.2:c.567T>G	XP_016885090.1:p.Pro189=
XM_017029602.1:c.450T>G	XP_016885091.1:p.Pro150=
XM_017029603.1:c.402T>G	XP_016885092.1:p.Pro134=
XM_017029604.2:c.456T>G	XP_016885093.1:p.Pro152=
XM_017029605.1:c.453T>G	XP_016885094.1:p.Pro151=
XM_017029606.2:c.339T>G	XP_016885095.1:p.Pro113=
XM_017029607.2:c.336T>G	XP_016885096.1:p.Pro112=
XM_017029608.2:c.288T>G	XP_016885097.1:p.Pro96=
XM_017029609.1:c.339T>G	XP_016885098.1:p.Pro113=
XM_017029610.1:c.336T>G	XP_016885099.1:p.Pro112=
XM_017029611.1:c.291T>G	XP_016885100.1:p.Pro97=
XR_001755700.2:n.795T>G
NM_138270.4:c.456T>G	NP_612114.2:p.Pro152=
NM_000489.6:c.570T>G MANE Select	NP_000480.3:p.Pro190=
NM_138270.5:c.456T>G	NP_612114.2:p.Pro152=