Canonical Allele Identifier: CA2694140403

Gene: ATRX

Linked Data

• gnomAD v4: X-77574454-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574454G>T , CM000685.2:g.77574454G>T	GRCh38
NC_000023.10:g.76829919G>T , CM000685.1:g.76829919G>T	GRCh37
NC_000023.9:g.76716575G>T	NCBI36
NG_008838.2:g.216768C>A
NG_008838.3:g.216816C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6218-96C>A MANE Select	ENSP00000362441.4:n.6218-96C>A
ENST00000636152.1:n.53-96C>A
ENST00000675732.1:c.1316-96C>A	ENSP00000502598.1:n.1316-96C>A
ENST00000373344.9:c.6218-96C>A	ENSP00000362441.4:n.6218-96C>A
ENST00000395603.7:c.6104-96C>A	ENSP00000378967.3:n.6104-96C>A
ENST00000480283.5:c.*5846-96C>A	ENSP00000480196.1:n.*5846-96C>A
ENST00000623316.1:c.702-96C>A
ENST00000623706.3:n.3288-96C>A
NM_000489.4:c.6218-96C>A	NP_000480.3:n.6218-96C>A
NM_138270.3:c.6104-96C>A	NP_612114.2:n.6104-96C>A
XM_005262153.3:c.6215-96C>A	XP_005262210.2:n.6215-96C>A
XM_005262154.3:c.6131-96C>A	XP_005262211.2:n.6131-96C>A
XM_005262155.3:c.6101-96C>A	XP_005262212.2:n.6101-96C>A
XM_005262156.3:c.6053-96C>A	XP_005262213.2:n.6053-96C>A
XM_005262157.3:c.6014-96C>A	XP_005262214.2:n.6014-96C>A
XM_006724666.2:c.6101-96C>A	XP_006724729.1:n.6101-96C>A
XM_006724667.2:c.5939-96C>A	XP_006724730.1:n.5939-96C>A
XR_938400.1:n.6560-96C>A
NM_000489.5:c.6218-96C>A	NP_000480.3:n.6218-96C>A
XM_005262153.5:c.6215-96C>A	XP_005262210.2:n.6215-96C>A
XM_005262154.5:c.6131-96C>A	XP_005262211.2:n.6131-96C>A
XM_005262155.4:c.6101-96C>A	XP_005262212.2:n.6101-96C>A
XM_005262156.4:c.6053-96C>A	XP_005262213.2:n.6053-96C>A
XM_005262157.5:c.6014-96C>A	XP_005262214.2:n.6014-96C>A
XM_006724666.4:c.6101-96C>A	XP_006724729.1:n.6101-96C>A
XM_006724667.3:c.5939-96C>A	XP_006724730.1:n.5939-96C>A
XM_017029601.2:c.6128-96C>A	XP_016885090.1:n.6128-96C>A
XM_017029602.1:c.6098-96C>A	XP_016885091.1:n.6098-96C>A
XM_017029603.1:c.6050-96C>A	XP_016885092.1:n.6050-96C>A
XM_017029604.2:c.6017-96C>A	XP_016885093.1:n.6017-96C>A
XM_017029605.1:c.6014-96C>A	XP_016885094.1:n.6014-96C>A
XM_017029606.2:c.5987-96C>A	XP_016885095.1:n.5987-96C>A
XM_017029607.2:c.5984-96C>A	XP_016885096.1:n.5984-96C>A
XM_017029608.2:c.5936-96C>A	XP_016885097.1:n.5936-96C>A
XM_017029609.1:c.5900-96C>A	XP_016885098.1:n.5900-96C>A
XM_017029610.1:c.5897-96C>A	XP_016885099.1:n.5897-96C>A
XM_017029611.1:c.5852-96C>A	XP_016885100.1:n.5852-96C>A
XR_001755700.2:n.6517-96C>A
NM_138270.4:c.6104-96C>A	NP_612114.2:n.6104-96C>A
NM_000489.6:c.6218-96C>A MANE Select	NP_000480.3:n.6218-96C>A
NM_138270.5:c.6104-96C>A	NP_612114.2:n.6104-96C>A