Canonical Allele Identifier: CA331568072

Gene: ATRX

Linked Data

• ClinVar Variation Id: 434463
• ClinVar RCV Id: RCV000499963 ; RCV001475959 ; RCV002316433 ; RCV004541554
• dbSNP Id: rs111725949
• gnomAD v4: X-77663467-C-T
• MyVariant Identifiers: chrX:g.76918956C>T (hg19) ; chrX:g.77663467C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77663467C>T , CM000685.2:g.77663467C>T	GRCh38
NC_000023.10:g.76918956C>T , CM000685.1:g.76918956C>T	GRCh37
NC_000023.9:g.76805612C>T	NCBI36
NG_008838.2:g.127755G>A
NG_008838.3:g.127803G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4035G>A MANE Select	ENSP00000362441.4:p.Leu1345=
ENST00000373344.9:c.4035G>A	ENSP00000362441.4:p.Leu1345=
ENST00000395603.7:c.3921G>A	ENSP00000378967.3:p.Leu1307=
ENST00000480283.5:c.*3663G>A	ENSP00000480196.1:n.*3663G>A
ENST00000624166.3:c.3831G>A	ENSP00000485103.1:p.Leu1277=
NM_000489.4:c.4035G>A	NP_000480.3:p.Leu1345=
NM_138270.3:c.3921G>A	NP_612114.2:p.Leu1307=
XM_005262153.3:c.4032G>A	XP_005262210.2:p.Leu1344=
XM_005262154.3:c.3948G>A	XP_005262211.2:p.Leu1316=
XM_005262155.3:c.3918G>A	XP_005262212.2:p.Leu1306=
XM_005262156.3:c.3870G>A	XP_005262213.2:p.Leu1290=
XM_005262157.3:c.3831G>A	XP_005262214.2:p.Leu1277=
XM_006724666.2:c.3918G>A	XP_006724729.1:p.Leu1306=
XM_006724667.2:c.3756G>A	XP_006724730.1:p.Leu1252=
XM_006724668.2:c.4035G>A	XP_006724731.1:p.Leu1345=
XR_938400.1:n.4303G>A
NM_000489.5:c.4035G>A	NP_000480.3:p.Leu1345=
XM_005262153.5:c.4032G>A	XP_005262210.2:p.Leu1344=
XM_005262154.5:c.3948G>A	XP_005262211.2:p.Leu1316=
XM_005262155.4:c.3918G>A	XP_005262212.2:p.Leu1306=
XM_005262156.4:c.3870G>A	XP_005262213.2:p.Leu1290=
XM_005262157.5:c.3831G>A	XP_005262214.2:p.Leu1277=
XM_006724666.4:c.3918G>A	XP_006724729.1:p.Leu1306=
XM_006724667.3:c.3756G>A	XP_006724730.1:p.Leu1252=
XM_006724668.3:c.4035G>A	XP_006724731.1:p.Leu1345=
XM_017029601.2:c.3945G>A	XP_016885090.1:p.Leu1315=
XM_017029602.1:c.3915G>A	XP_016885091.1:p.Leu1305=
XM_017029603.1:c.3867G>A	XP_016885092.1:p.Leu1289=
XM_017029604.2:c.3834G>A	XP_016885093.1:p.Leu1278=
XM_017029605.1:c.3831G>A	XP_016885094.1:p.Leu1277=
XM_017029606.2:c.3804G>A	XP_016885095.1:p.Leu1268=
XM_017029607.2:c.3801G>A	XP_016885096.1:p.Leu1267=
XM_017029608.2:c.3753G>A	XP_016885097.1:p.Leu1251=
XM_017029609.1:c.3717G>A	XP_016885098.1:p.Leu1239=
XM_017029610.1:c.3714G>A	XP_016885099.1:p.Leu1238=
XM_017029611.1:c.3669G>A	XP_016885100.1:p.Leu1223=
XR_001755700.2:n.4260G>A
NM_138270.4:c.3921G>A	NP_612114.2:p.Leu1307=
NM_000489.6:c.4035G>A MANE Select	NP_000480.3:p.Leu1345=
NM_138270.5:c.3921G>A	NP_612114.2:p.Leu1307=