Canonical Allele Identifier: CA10457535

Gene: ATRX

Linked Data

• dbSNP Id: rs781889078
• ExAC: X:76845277 T / C
• gnomAD v2: X-76845277-T-C
• gnomAD v3: X-77589807-T-C
• gnomAD v4: X-77589807-T-C
• MyVariant Identifiers: chrX:g.76845277T>C (hg19) ; chrX:g.77589807T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77589807T>C , CM000685.2:g.77589807T>C	GRCh38
NC_000023.10:g.76845277T>C , CM000685.1:g.76845277T>C	GRCh37
NC_000023.9:g.76731933T>C	NCBI36
NG_008838.2:g.201415A>G
NG_008838.3:g.201463A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000373344.11:c.6217+27A>G MANE Select	ENSP00000362441.4:n.6217+27A>G
ENST00000636868.1:n.39+27A>G
ENST00000675732.1:c.1315+27A>G	ENSP00000502598.1:n.1315+27A>G
ENST00000373344.9:c.6217+27A>G	ENSP00000362441.4:n.6217+27A>G
ENST00000395603.7:c.6103+27A>G	ENSP00000378967.3:n.6103+27A>G
ENST00000480283.5:c.*5845+27A>G	ENSP00000480196.1:n.*5845+27A>G
ENST00000623316.1:c.701+27A>G
ENST00000623706.3:n.3287+27A>G
NM_000489.4:c.6217+27A>G	NP_000480.3:n.6217+27A>G
NM_138270.3:c.6103+27A>G	NP_612114.2:n.6103+27A>G
XM_005262153.3:c.6214+27A>G	XP_005262210.2:n.6214+27A>G
XM_005262154.3:c.6130+27A>G	XP_005262211.2:n.6130+27A>G
XM_005262155.3:c.6100+27A>G	XP_005262212.2:n.6100+27A>G
XM_005262156.3:c.6052+27A>G	XP_005262213.2:n.6052+27A>G
XM_005262157.3:c.6013+27A>G	XP_005262214.2:n.6013+27A>G
XM_006724666.2:c.6100+27A>G	XP_006724729.1:n.6100+27A>G
XM_006724667.2:c.5938+27A>G	XP_006724730.1:n.5938+27A>G
XR_938400.1:n.6559+27A>G
NM_000489.5:c.6217+27A>G	NP_000480.3:n.6217+27A>G
XM_005262153.5:c.6214+27A>G	XP_005262210.2:n.6214+27A>G
XM_005262154.5:c.6130+27A>G	XP_005262211.2:n.6130+27A>G
XM_005262155.4:c.6100+27A>G	XP_005262212.2:n.6100+27A>G
XM_005262156.4:c.6052+27A>G	XP_005262213.2:n.6052+27A>G
XM_005262157.5:c.6013+27A>G	XP_005262214.2:n.6013+27A>G
XM_006724666.4:c.6100+27A>G	XP_006724729.1:n.6100+27A>G
XM_006724667.3:c.5938+27A>G	XP_006724730.1:n.5938+27A>G
XM_017029601.2:c.6127+27A>G	XP_016885090.1:n.6127+27A>G
XM_017029602.1:c.6097+27A>G	XP_016885091.1:n.6097+27A>G
XM_017029603.1:c.6049+27A>G	XP_016885092.1:n.6049+27A>G
XM_017029604.2:c.6016+27A>G	XP_016885093.1:n.6016+27A>G
XM_017029605.1:c.6013+27A>G	XP_016885094.1:n.6013+27A>G
XM_017029606.2:c.5986+27A>G	XP_016885095.1:n.5986+27A>G
XM_017029607.2:c.5983+27A>G	XP_016885096.1:n.5983+27A>G
XM_017029608.2:c.5935+27A>G	XP_016885097.1:n.5935+27A>G
XM_017029609.1:c.5899+27A>G	XP_016885098.1:n.5899+27A>G
XM_017029610.1:c.5896+27A>G	XP_016885099.1:n.5896+27A>G
XM_017029611.1:c.5851+27A>G	XP_016885100.1:n.5851+27A>G
XR_001755700.2:n.6516+27A>G
NM_138270.4:c.6103+27A>G	NP_612114.2:n.6103+27A>G
NM_000489.6:c.6217+27A>G MANE Select	NP_000480.3:n.6217+27A>G
NM_138270.5:c.6103+27A>G	NP_612114.2:n.6103+27A>G