Canonical Allele Identifier: CA2694142492

Gene: ATRX

Linked Data

• gnomAD v4: X-77651971-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77651971G>A , CM000685.2:g.77651971G>A	GRCh38
NC_000023.10:g.76907461G>A , CM000685.1:g.76907461G>A	GRCh37
NC_000023.9:g.76794117G>A	NCBI36
NG_008838.2:g.139251C>T
NG_008838.3:g.139299C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4557+143C>T MANE Select	ENSP00000362441.4:n.4557+143C>T
ENST00000373344.9:c.4557+143C>T	ENSP00000362441.4:n.4557+143C>T
ENST00000395603.7:c.4443+143C>T	ENSP00000378967.3:n.4443+143C>T
ENST00000460639.2:n.37+143C>T
ENST00000480283.5:c.*4185+143C>T	ENSP00000480196.1:n.*4185+143C>T
ENST00000623242.3:c.294+12C>T
NM_000489.4:c.4557+143C>T	NP_000480.3:n.4557+143C>T
NM_138270.3:c.4443+143C>T	NP_612114.2:n.4443+143C>T
XM_005262153.3:c.4554+143C>T	XP_005262210.2:n.4554+143C>T
XM_005262154.3:c.4470+143C>T	XP_005262211.2:n.4470+143C>T
XM_005262155.3:c.4440+143C>T	XP_005262212.2:n.4440+143C>T
XM_005262156.3:c.4392+143C>T	XP_005262213.2:n.4392+143C>T
XM_005262157.3:c.4353+143C>T	XP_005262214.2:n.4353+143C>T
XM_006724666.2:c.4440+143C>T	XP_006724729.1:n.4440+143C>T
XM_006724667.2:c.4278+143C>T	XP_006724730.1:n.4278+143C>T
XM_006724668.2:c.4557+143C>T	XP_006724731.1:n.4557+143C>T
XR_938400.1:n.4825+143C>T
NM_000489.5:c.4557+143C>T	NP_000480.3:n.4557+143C>T
XM_005262153.5:c.4554+143C>T	XP_005262210.2:n.4554+143C>T
XM_005262154.5:c.4470+143C>T	XP_005262211.2:n.4470+143C>T
XM_005262155.4:c.4440+143C>T	XP_005262212.2:n.4440+143C>T
XM_005262156.4:c.4392+143C>T	XP_005262213.2:n.4392+143C>T
XM_005262157.5:c.4353+143C>T	XP_005262214.2:n.4353+143C>T
XM_006724666.4:c.4440+143C>T	XP_006724729.1:n.4440+143C>T
XM_006724667.3:c.4278+143C>T	XP_006724730.1:n.4278+143C>T
XM_006724668.3:c.4557+143C>T	XP_006724731.1:n.4557+143C>T
XM_017029601.2:c.4467+143C>T	XP_016885090.1:n.4467+143C>T
XM_017029602.1:c.4437+143C>T	XP_016885091.1:n.4437+143C>T
XM_017029603.1:c.4389+143C>T	XP_016885092.1:n.4389+143C>T
XM_017029604.2:c.4356+143C>T	XP_016885093.1:n.4356+143C>T
XM_017029605.1:c.4353+143C>T	XP_016885094.1:n.4353+143C>T
XM_017029606.2:c.4326+143C>T	XP_016885095.1:n.4326+143C>T
XM_017029607.2:c.4323+143C>T	XP_016885096.1:n.4323+143C>T
XM_017029608.2:c.4275+143C>T	XP_016885097.1:n.4275+143C>T
XM_017029609.1:c.4239+143C>T	XP_016885098.1:n.4239+143C>T
XM_017029610.1:c.4236+143C>T	XP_016885099.1:n.4236+143C>T
XM_017029611.1:c.4191+143C>T	XP_016885100.1:n.4191+143C>T
XR_001755700.2:n.4782+143C>T
NM_138270.4:c.4443+143C>T	NP_612114.2:n.4443+143C>T
NM_000489.6:c.4557+143C>T MANE Select	NP_000480.3:n.4557+143C>T
NM_138270.5:c.4443+143C>T	NP_612114.2:n.4443+143C>T