Canonical Allele Identifier: CA121653

Gene: ATRX

Linked Data

• ClinVar Variation Id: 11742
• ClinVar RCV Id: RCV000012508 ; RCV000148028 ; RCV000224314 ; RCV000680146 ; RCV002444427 ; RCV003151722
• dbSNP Id: rs122445108
• gnomAD v4: X-77717155-G-A
• MyVariant Identifiers: chrX:g.76972632G>A (hg19) ; chrX:g.77717155G>A (hg38)
• PubMed: PMID:3239563 ; PMID:10632111 ; PMID:15508018 ; PMID:15591283 ; PMID:20301622 ; PMID:25167861

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77717155G>A , CM000685.2:g.77717155G>A	GRCh38
NC_000023.10:g.76972632G>A , CM000685.1:g.76972632G>A	GRCh37
NC_000023.9:g.76859288G>A	NCBI36
NG_008838.2:g.74067C>T
NG_008838.3:g.74115C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.109C>T MANE Select	ENSP00000362441.4:p.Arg37Ter
ENST00000373344.9:c.109C>T	ENSP00000362441.4:p.Arg37Ter
ENST00000395603.7:c.109C>T	ENSP00000378967.3:p.Arg37Ter
ENST00000480283.5:c.109C>T	ENSP00000480196.1:p.Arg37Ter
ENST00000622960.1:c.-9C>T	ENSP00000485587.1:n.-9C>T
ENST00000623321.3:c.-32-18526C>T	ENSP00000485127.1:n.-32-18526C>T
ENST00000624032.3:c.109C>T	ENSP00000485253.1:p.Arg37Ter
ENST00000624166.3:c.109C>T	ENSP00000485103.1:p.Arg37Ter
ENST00000624193.1:n.312C>T
ENST00000624668.3:c.-32-18526C>T	ENSP00000485100.1:n.-32-18526C>T
NM_000489.4:c.109C>T	NP_000480.3:p.Arg37Ter
NM_138270.3:c.109C>T	NP_612114.2:p.Arg37Ter
XM_005262153.3:c.109C>T	XP_005262210.2:p.Arg37Ter
XM_005262154.3:c.109C>T	XP_005262211.2:p.Arg37Ter
XM_005262155.3:c.-9C>T	XP_005262212.2:n.-9C>T
XM_005262156.3:c.-32-18526C>T	XP_005262213.2:n.-32-18526C>T
XM_005262157.3:c.109C>T	XP_005262214.2:p.Arg37Ter
XM_006724666.2:c.109C>T	XP_006724729.1:p.Arg37Ter
XM_006724667.2:c.-32-18526C>T	XP_006724730.1:n.-32-18526C>T
XM_006724668.2:c.109C>T	XP_006724731.1:p.Arg37Ter
XR_938400.1:n.377C>T
NM_000489.5:c.109C>T	NP_000480.3:p.Arg37Ter
XM_005262153.5:c.109C>T	XP_005262210.2:p.Arg37Ter
XM_005262154.5:c.109C>T	XP_005262211.2:p.Arg37Ter
XM_005262155.4:c.-9C>T	XP_005262212.2:n.-9C>T
XM_005262156.4:c.-32-18526C>T	XP_005262213.2:n.-32-18526C>T
XM_005262157.5:c.109C>T	XP_005262214.2:p.Arg37Ter
XM_006724666.4:c.109C>T	XP_006724729.1:p.Arg37Ter
XM_006724667.3:c.-32-18526C>T	XP_006724730.1:n.-32-18526C>T
XM_006724668.3:c.109C>T	XP_006724731.1:p.Arg37Ter
XM_017029601.2:c.109C>T	XP_016885090.1:p.Arg37Ter
XM_017029602.1:c.-9C>T	XP_016885091.1:n.-9C>T
XM_017029603.1:c.-32-18526C>T	XP_016885092.1:n.-32-18526C>T
XM_017029604.2:c.109C>T	XP_016885093.1:p.Arg37Ter
XM_017029605.1:c.-9C>T	XP_016885094.1:n.-9C>T
XM_017029606.2:c.-9C>T	XP_016885095.1:n.-9C>T
XM_017029607.2:c.-9C>T	XP_016885096.1:n.-9C>T
XM_017029608.2:c.-32-18526C>T	XP_016885097.1:n.-32-18526C>T
XM_017029609.1:c.-9C>T	XP_016885098.1:n.-9C>T
XM_017029610.1:c.-9C>T	XP_016885099.1:n.-9C>T
XM_017029611.1:c.-32-18526C>T	XP_016885100.1:n.-32-18526C>T
XR_001755700.2:n.334C>T
NM_138270.4:c.109C>T	NP_612114.2:p.Arg37Ter
NM_000489.6:c.109C>T MANE Select	NP_000480.3:p.Arg37Ter
NM_138270.5:c.109C>T	NP_612114.2:p.Arg37Ter