Canonical Allele Identifier: CA2438989304

Gene: ATRX

Linked Data

• dbSNP Id: rs2071721921
• gnomAD v4: X-77688761-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77688761G>A , CM000685.2:g.77688761G>A	GRCh38
NC_000023.10:g.76944254G>A , CM000685.1:g.76944254G>A	GRCh37
NC_000023.9:g.76830910G>A	NCBI36
NG_008838.2:g.102461C>T
NG_008838.3:g.102509C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000373344.11:c.594+57C>T MANE Select	ENSP00000362441.4:n.594+57C>T
ENST00000373344.9:c.594+57C>T	ENSP00000362441.4:n.594+57C>T
ENST00000395603.7:c.480+57C>T	ENSP00000378967.3:n.480+57C>T
ENST00000480283.5:c.*222+57C>T	ENSP00000480196.1:n.*222+57C>T
ENST00000623321.3:c.429+57C>T	ENSP00000485127.1:n.429+57C>T
ENST00000624032.3:c.594+57C>T	ENSP00000485253.1:n.594+57C>T
ENST00000624166.3:c.477+57C>T	ENSP00000485103.1:n.477+57C>T
ENST00000624668.3:c.315+57C>T	ENSP00000485100.1:n.315+57C>T
ENST00000625063.3:c.409+57C>T
NM_000489.4:c.594+57C>T	NP_000480.3:n.594+57C>T
NM_138270.3:c.480+57C>T	NP_612114.2:n.480+57C>T
XM_005262153.3:c.591+57C>T	XP_005262210.2:n.591+57C>T
XM_005262154.3:c.594+57C>T	XP_005262211.2:n.594+57C>T
XM_005262155.3:c.477+57C>T	XP_005262212.2:n.477+57C>T
XM_005262156.3:c.429+57C>T	XP_005262213.2:n.429+57C>T
XM_005262157.3:c.477+57C>T	XP_005262214.2:n.477+57C>T
XM_006724666.2:c.477+57C>T	XP_006724729.1:n.477+57C>T
XM_006724667.2:c.315+57C>T	XP_006724730.1:n.315+57C>T
XM_006724668.2:c.594+57C>T	XP_006724731.1:n.594+57C>T
XR_938400.1:n.862+57C>T
NM_000489.5:c.594+57C>T	NP_000480.3:n.594+57C>T
XM_005262153.5:c.591+57C>T	XP_005262210.2:n.591+57C>T
XM_005262154.5:c.594+57C>T	XP_005262211.2:n.594+57C>T
XM_005262155.4:c.477+57C>T	XP_005262212.2:n.477+57C>T
XM_005262156.4:c.429+57C>T	XP_005262213.2:n.429+57C>T
XM_005262157.5:c.477+57C>T	XP_005262214.2:n.477+57C>T
XM_006724666.4:c.477+57C>T	XP_006724729.1:n.477+57C>T
XM_006724667.3:c.315+57C>T	XP_006724730.1:n.315+57C>T
XM_006724668.3:c.594+57C>T	XP_006724731.1:n.594+57C>T
XM_017029601.2:c.591+57C>T	XP_016885090.1:n.591+57C>T
XM_017029602.1:c.474+57C>T	XP_016885091.1:n.474+57C>T
XM_017029603.1:c.426+57C>T	XP_016885092.1:n.426+57C>T
XM_017029604.2:c.480+57C>T	XP_016885093.1:n.480+57C>T
XM_017029605.1:c.477+57C>T	XP_016885094.1:n.477+57C>T
XM_017029606.2:c.363+57C>T	XP_016885095.1:n.363+57C>T
XM_017029607.2:c.360+57C>T	XP_016885096.1:n.360+57C>T
XM_017029608.2:c.312+57C>T	XP_016885097.1:n.312+57C>T
XM_017029609.1:c.363+57C>T	XP_016885098.1:n.363+57C>T
XM_017029610.1:c.360+57C>T	XP_016885099.1:n.360+57C>T
XM_017029611.1:c.315+57C>T	XP_016885100.1:n.315+57C>T
XR_001755700.2:n.819+57C>T
NM_138270.4:c.480+57C>T	NP_612114.2:n.480+57C>T
NM_000489.6:c.594+57C>T MANE Select	NP_000480.3:n.594+57C>T
NM_138270.5:c.480+57C>T	NP_612114.2:n.480+57C>T