Canonical Allele Identifier: CA2694140500

Gene: ATRX

Linked Data

• ClinVar Variation Id: 2761779
• ClinVar RCV Id: RCV003512501
• gnomAD v4: X-77589822-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77589822T>A , CM000685.2:g.77589822T>A	GRCh38
NC_000023.10:g.76845292T>A , CM000685.1:g.76845292T>A	GRCh37
NC_000023.9:g.76731948T>A	NCBI36
NG_008838.2:g.201400A>T
NG_008838.3:g.201448A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6217+12A>T MANE Select	ENSP00000362441.4:n.6217+12A>T
ENST00000636868.1:n.39+12A>T
ENST00000675732.1:c.1315+12A>T	ENSP00000502598.1:n.1315+12A>T
ENST00000373344.9:c.6217+12A>T	ENSP00000362441.4:n.6217+12A>T
ENST00000395603.7:c.6103+12A>T	ENSP00000378967.3:n.6103+12A>T
ENST00000480283.5:c.*5845+12A>T	ENSP00000480196.1:n.*5845+12A>T
ENST00000623316.1:c.701+12A>T
ENST00000623706.3:n.3287+12A>T
NM_000489.4:c.6217+12A>T	NP_000480.3:n.6217+12A>T
NM_138270.3:c.6103+12A>T	NP_612114.2:n.6103+12A>T
XM_005262153.3:c.6214+12A>T	XP_005262210.2:n.6214+12A>T
XM_005262154.3:c.6130+12A>T	XP_005262211.2:n.6130+12A>T
XM_005262155.3:c.6100+12A>T	XP_005262212.2:n.6100+12A>T
XM_005262156.3:c.6052+12A>T	XP_005262213.2:n.6052+12A>T
XM_005262157.3:c.6013+12A>T	XP_005262214.2:n.6013+12A>T
XM_006724666.2:c.6100+12A>T	XP_006724729.1:n.6100+12A>T
XM_006724667.2:c.5938+12A>T	XP_006724730.1:n.5938+12A>T
XR_938400.1:n.6559+12A>T
NM_000489.5:c.6217+12A>T	NP_000480.3:n.6217+12A>T
XM_005262153.5:c.6214+12A>T	XP_005262210.2:n.6214+12A>T
XM_005262154.5:c.6130+12A>T	XP_005262211.2:n.6130+12A>T
XM_005262155.4:c.6100+12A>T	XP_005262212.2:n.6100+12A>T
XM_005262156.4:c.6052+12A>T	XP_005262213.2:n.6052+12A>T
XM_005262157.5:c.6013+12A>T	XP_005262214.2:n.6013+12A>T
XM_006724666.4:c.6100+12A>T	XP_006724729.1:n.6100+12A>T
XM_006724667.3:c.5938+12A>T	XP_006724730.1:n.5938+12A>T
XM_017029601.2:c.6127+12A>T	XP_016885090.1:n.6127+12A>T
XM_017029602.1:c.6097+12A>T	XP_016885091.1:n.6097+12A>T
XM_017029603.1:c.6049+12A>T	XP_016885092.1:n.6049+12A>T
XM_017029604.2:c.6016+12A>T	XP_016885093.1:n.6016+12A>T
XM_017029605.1:c.6013+12A>T	XP_016885094.1:n.6013+12A>T
XM_017029606.2:c.5986+12A>T	XP_016885095.1:n.5986+12A>T
XM_017029607.2:c.5983+12A>T	XP_016885096.1:n.5983+12A>T
XM_017029608.2:c.5935+12A>T	XP_016885097.1:n.5935+12A>T
XM_017029609.1:c.5899+12A>T	XP_016885098.1:n.5899+12A>T
XM_017029610.1:c.5896+12A>T	XP_016885099.1:n.5896+12A>T
XM_017029611.1:c.5851+12A>T	XP_016885100.1:n.5851+12A>T
XR_001755700.2:n.6516+12A>T
NM_138270.4:c.6103+12A>T	NP_612114.2:n.6103+12A>T
NM_000489.6:c.6217+12A>T MANE Select	NP_000480.3:n.6217+12A>T
NM_138270.5:c.6103+12A>T	NP_612114.2:n.6103+12A>T