Canonical Allele Identifier: CA517374101

Gene: ATRX

Linked Data

• ClinVar Variation Id: 2107208
• ClinVar RCV Id: RCV003029092
• MyVariant Identifiers: chrX:g.76763964A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508486A>C , CM000685.2:g.77508486A>C	GRCh38
NC_000023.10:g.76763964A>C , CM000685.1:g.76763964A>C	GRCh37
NC_000023.9:g.76650620A>C	NCBI36
NG_008838.2:g.282736T>G
NG_008838.3:g.282784T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7344T>G MANE Select	ENSP00000362441.4:p.Pro2448=
ENST00000675732.1:c.2442T>G	ENSP00000502598.1:p.Pro814=
ENST00000373344.9:c.7344T>G	ENSP00000362441.4:p.Pro2448=
ENST00000395603.7:c.7230T>G	ENSP00000378967.3:p.Pro2410=
ENST00000480283.5:c.*6972T>G	ENSP00000480196.1:n.*6972T>G
ENST00000623706.3:n.5664T>G
ENST00000624766.1:n.575T>G
NM_000489.4:c.7344T>G	NP_000480.3:p.Pro2448=
NM_138270.3:c.7230T>G	NP_612114.2:p.Pro2410=
XM_005262153.3:c.7341T>G	XP_005262210.2:p.Pro2447=
XM_005262154.3:c.7257T>G	XP_005262211.2:p.Pro2419=
XM_005262155.3:c.7227T>G	XP_005262212.2:p.Pro2409=
XM_005262156.3:c.7179T>G	XP_005262213.2:p.Pro2393=
XM_005262157.3:c.7140T>G	XP_005262214.2:p.Pro2380=
XM_006724666.2:c.7227T>G	XP_006724729.1:p.Pro2409=
XM_006724667.2:c.7065T>G	XP_006724730.1:p.Pro2355=
XR_938400.1:n.8936T>G
NM_000489.5:c.7344T>G	NP_000480.3:p.Pro2448=
XM_005262153.5:c.7341T>G	XP_005262210.2:p.Pro2447=
XM_005262154.5:c.7257T>G	XP_005262211.2:p.Pro2419=
XM_005262155.4:c.7227T>G	XP_005262212.2:p.Pro2409=
XM_005262156.4:c.7179T>G	XP_005262213.2:p.Pro2393=
XM_005262157.5:c.7140T>G	XP_005262214.2:p.Pro2380=
XM_006724666.4:c.7227T>G	XP_006724729.1:p.Pro2409=
XM_006724667.3:c.7065T>G	XP_006724730.1:p.Pro2355=
XM_017029601.2:c.7254T>G	XP_016885090.1:p.Pro2418=
XM_017029602.1:c.7224T>G	XP_016885091.1:p.Pro2408=
XM_017029603.1:c.7176T>G	XP_016885092.1:p.Pro2392=
XM_017029604.2:c.7143T>G	XP_016885093.1:p.Pro2381=
XM_017029605.1:c.7140T>G	XP_016885094.1:p.Pro2380=
XM_017029606.2:c.7113T>G	XP_016885095.1:p.Pro2371=
XM_017029607.2:c.7110T>G	XP_016885096.1:p.Pro2370=
XM_017029608.2:c.7062T>G	XP_016885097.1:p.Pro2354=
XM_017029609.1:c.7026T>G	XP_016885098.1:p.Pro2342=
XM_017029610.1:c.7023T>G	XP_016885099.1:p.Pro2341=
XM_017029611.1:c.6978T>G	XP_016885100.1:p.Pro2326=
XR_001755700.2:n.7643T>G
NM_138270.4:c.7230T>G	NP_612114.2:p.Pro2410=
NM_000489.6:c.7344T>G MANE Select	NP_000480.3:p.Pro2448=
NM_138270.5:c.7230T>G	NP_612114.2:p.Pro2410=