Canonical Allele Identifier: CA10457395

Gene: ATRX

Linked Data

• dbSNP Id: rs782695845
• ExAC: X:76763982 T / C
• gnomAD v2: X-76763982-T-C
• MyVariant Identifiers: chrX:g.76763982T>C (hg19) ; chrX:g.77508504T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508504T>C , CM000685.2:g.77508504T>C	GRCh38
NC_000023.10:g.76763982T>C , CM000685.1:g.76763982T>C	GRCh37
NC_000023.9:g.76650638T>C	NCBI36
NG_008838.2:g.282718A>G
NG_008838.3:g.282766A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7326A>G MANE Select	ENSP00000362441.4:p.Pro2442=
ENST00000675732.1:c.2424A>G	ENSP00000502598.1:p.Pro808=
ENST00000373344.9:c.7326A>G	ENSP00000362441.4:p.Pro2442=
ENST00000395603.7:c.7212A>G	ENSP00000378967.3:p.Pro2404=
ENST00000480283.5:c.*6954A>G	ENSP00000480196.1:n.*6954A>G
ENST00000623706.3:n.5646A>G
ENST00000624766.1:n.557A>G
NM_000489.4:c.7326A>G	NP_000480.3:p.Pro2442=
NM_138270.3:c.7212A>G	NP_612114.2:p.Pro2404=
XM_005262153.3:c.7323A>G	XP_005262210.2:p.Pro2441=
XM_005262154.3:c.7239A>G	XP_005262211.2:p.Pro2413=
XM_005262155.3:c.7209A>G	XP_005262212.2:p.Pro2403=
XM_005262156.3:c.7161A>G	XP_005262213.2:p.Pro2387=
XM_005262157.3:c.7122A>G	XP_005262214.2:p.Pro2374=
XM_006724666.2:c.7209A>G	XP_006724729.1:p.Pro2403=
XM_006724667.2:c.7047A>G	XP_006724730.1:p.Pro2349=
XR_938400.1:n.8918A>G
NM_000489.5:c.7326A>G	NP_000480.3:p.Pro2442=
XM_005262153.5:c.7323A>G	XP_005262210.2:p.Pro2441=
XM_005262154.5:c.7239A>G	XP_005262211.2:p.Pro2413=
XM_005262155.4:c.7209A>G	XP_005262212.2:p.Pro2403=
XM_005262156.4:c.7161A>G	XP_005262213.2:p.Pro2387=
XM_005262157.5:c.7122A>G	XP_005262214.2:p.Pro2374=
XM_006724666.4:c.7209A>G	XP_006724729.1:p.Pro2403=
XM_006724667.3:c.7047A>G	XP_006724730.1:p.Pro2349=
XM_017029601.2:c.7236A>G	XP_016885090.1:p.Pro2412=
XM_017029602.1:c.7206A>G	XP_016885091.1:p.Pro2402=
XM_017029603.1:c.7158A>G	XP_016885092.1:p.Pro2386=
XM_017029604.2:c.7125A>G	XP_016885093.1:p.Pro2375=
XM_017029605.1:c.7122A>G	XP_016885094.1:p.Pro2374=
XM_017029606.2:c.7095A>G	XP_016885095.1:p.Pro2365=
XM_017029607.2:c.7092A>G	XP_016885096.1:p.Pro2364=
XM_017029608.2:c.7044A>G	XP_016885097.1:p.Pro2348=
XM_017029609.1:c.7008A>G	XP_016885098.1:p.Pro2336=
XM_017029610.1:c.7005A>G	XP_016885099.1:p.Pro2335=
XM_017029611.1:c.6960A>G	XP_016885100.1:p.Pro2320=
XR_001755700.2:n.7625A>G
NM_138270.4:c.7212A>G	NP_612114.2:p.Pro2404=
NM_000489.6:c.7326A>G MANE Select	NP_000480.3:p.Pro2442=
NM_138270.5:c.7212A>G	NP_612114.2:p.Pro2404=