Canonical Allele Identifier: CA256044

Gene: ATRX

Linked Data

• ClinVar Variation Id: 11734
• ClinVar RCV Id: RCV000012500 ; RCV000197579
• dbSNP Id: rs122445103
• MyVariant Identifiers: chrX:g.76944337G>C (hg19) ; chrX:g.77688844G>C (hg38)
• PubMed: PMID:9326931 ; PMID:25326637

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77688844G>C , CM000685.2:g.77688844G>C	GRCh38
NC_000023.10:g.76944337G>C , CM000685.1:g.76944337G>C	GRCh37
NC_000023.9:g.76830993G>C	NCBI36
NG_008838.2:g.102378C>G
NG_008838.3:g.102426C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.568C>G MANE Select	ENSP00000362441.4:p.Pro190Ala
ENST00000373344.9:c.568C>G	ENSP00000362441.4:p.Pro190Ala
ENST00000395603.7:c.454C>G	ENSP00000378967.3:p.Pro152Ala
ENST00000480283.5:c.*196C>G	ENSP00000480196.1:n.*196C>G
ENST00000623321.3:c.403C>G	ENSP00000485127.1:p.Pro135Ala
ENST00000624032.3:c.568C>G	ENSP00000485253.1:p.Pro190Ala
ENST00000624166.3:c.451C>G	ENSP00000485103.1:p.Pro151Ala
ENST00000624668.3:c.289C>G	ENSP00000485100.1:p.Pro97Ala
ENST00000625063.3:c.383C>G
NM_000489.4:c.568C>G	NP_000480.3:p.Pro190Ala
NM_138270.3:c.454C>G	NP_612114.2:p.Pro152Ala
XM_005262153.3:c.565C>G	XP_005262210.2:p.Pro189Ala
XM_005262154.3:c.568C>G	XP_005262211.2:p.Pro190Ala
XM_005262155.3:c.451C>G	XP_005262212.2:p.Pro151Ala
XM_005262156.3:c.403C>G	XP_005262213.2:p.Pro135Ala
XM_005262157.3:c.451C>G	XP_005262214.2:p.Pro151Ala
XM_006724666.2:c.451C>G	XP_006724729.1:p.Pro151Ala
XM_006724667.2:c.289C>G	XP_006724730.1:p.Pro97Ala
XM_006724668.2:c.568C>G	XP_006724731.1:p.Pro190Ala
XR_938400.1:n.836C>G
NM_000489.5:c.568C>G	NP_000480.3:p.Pro190Ala
XM_005262153.5:c.565C>G	XP_005262210.2:p.Pro189Ala
XM_005262154.5:c.568C>G	XP_005262211.2:p.Pro190Ala
XM_005262155.4:c.451C>G	XP_005262212.2:p.Pro151Ala
XM_005262156.4:c.403C>G	XP_005262213.2:p.Pro135Ala
XM_005262157.5:c.451C>G	XP_005262214.2:p.Pro151Ala
XM_006724666.4:c.451C>G	XP_006724729.1:p.Pro151Ala
XM_006724667.3:c.289C>G	XP_006724730.1:p.Pro97Ala
XM_006724668.3:c.568C>G	XP_006724731.1:p.Pro190Ala
XM_017029601.2:c.565C>G	XP_016885090.1:p.Pro189Ala
XM_017029602.1:c.448C>G	XP_016885091.1:p.Pro150Ala
XM_017029603.1:c.400C>G	XP_016885092.1:p.Pro134Ala
XM_017029604.2:c.454C>G	XP_016885093.1:p.Pro152Ala
XM_017029605.1:c.451C>G	XP_016885094.1:p.Pro151Ala
XM_017029606.2:c.337C>G	XP_016885095.1:p.Pro113Ala
XM_017029607.2:c.334C>G	XP_016885096.1:p.Pro112Ala
XM_017029608.2:c.286C>G	XP_016885097.1:p.Pro96Ala
XM_017029609.1:c.337C>G	XP_016885098.1:p.Pro113Ala
XM_017029610.1:c.334C>G	XP_016885099.1:p.Pro112Ala
XM_017029611.1:c.289C>G	XP_016885100.1:p.Pro97Ala
XR_001755700.2:n.793C>G
NM_138270.4:c.454C>G	NP_612114.2:p.Pro152Ala
NM_000489.6:c.568C>G MANE Select	NP_000480.3:p.Pro190Ala
NM_138270.5:c.454C>G	NP_612114.2:p.Pro152Ala