Canonical Allele Identifier: CA2738745259
Gene: ATRX HGNC NCBI

Linked Data

dbSNP Id: rs2148434643

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77652078C>G , CM000685.2:g.77652078C>G GRCh38
NC_000023.10:g.76907568C>G , CM000685.1:g.76907568C>G GRCh37
NC_000023.9:g.76794224C>G NCBI36
NG_008838.2:g.139144G>C
NG_008838.3:g.139192G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000373344.11:c.4557+36G>C MANE Select ENSP00000362441.4:n.4557+36G>C
ENST00000373344.9:c.4557+36G>C ENSP00000362441.4:n.4557+36G>C
ENST00000395603.7:c.4443+36G>C ENSP00000378967.3:n.4443+36G>C
ENST00000460639.2:n.37+36G>C
ENST00000480283.5:c.*4185+36G>C ENSP00000480196.1:n.*4185+36G>C
ENST00000623242.3:c.199G>C
NM_000489.4:c.4557+36G>C NP_000480.3:n.4557+36G>C
NM_138270.3:c.4443+36G>C NP_612114.2:n.4443+36G>C
XM_005262153.3:c.4554+36G>C XP_005262210.2:n.4554+36G>C
XM_005262154.3:c.4470+36G>C XP_005262211.2:n.4470+36G>C
XM_005262155.3:c.4440+36G>C XP_005262212.2:n.4440+36G>C
XM_005262156.3:c.4392+36G>C XP_005262213.2:n.4392+36G>C
XM_005262157.3:c.4353+36G>C XP_005262214.2:n.4353+36G>C
XM_006724666.2:c.4440+36G>C XP_006724729.1:n.4440+36G>C
XM_006724667.2:c.4278+36G>C XP_006724730.1:n.4278+36G>C
XM_006724668.2:c.4557+36G>C XP_006724731.1:n.4557+36G>C
XR_938400.1:n.4825+36G>C
NM_000489.5:c.4557+36G>C NP_000480.3:n.4557+36G>C
XM_005262153.5:c.4554+36G>C XP_005262210.2:n.4554+36G>C
XM_005262154.5:c.4470+36G>C XP_005262211.2:n.4470+36G>C
XM_005262155.4:c.4440+36G>C XP_005262212.2:n.4440+36G>C
XM_005262156.4:c.4392+36G>C XP_005262213.2:n.4392+36G>C
XM_005262157.5:c.4353+36G>C XP_005262214.2:n.4353+36G>C
XM_006724666.4:c.4440+36G>C XP_006724729.1:n.4440+36G>C
XM_006724667.3:c.4278+36G>C XP_006724730.1:n.4278+36G>C
XM_006724668.3:c.4557+36G>C XP_006724731.1:n.4557+36G>C
XM_017029601.2:c.4467+36G>C XP_016885090.1:n.4467+36G>C
XM_017029602.1:c.4437+36G>C XP_016885091.1:n.4437+36G>C
XM_017029603.1:c.4389+36G>C XP_016885092.1:n.4389+36G>C
XM_017029604.2:c.4356+36G>C XP_016885093.1:n.4356+36G>C
XM_017029605.1:c.4353+36G>C XP_016885094.1:n.4353+36G>C
XM_017029606.2:c.4326+36G>C XP_016885095.1:n.4326+36G>C
XM_017029607.2:c.4323+36G>C XP_016885096.1:n.4323+36G>C
XM_017029608.2:c.4275+36G>C XP_016885097.1:n.4275+36G>C
XM_017029609.1:c.4239+36G>C XP_016885098.1:n.4239+36G>C
XM_017029610.1:c.4236+36G>C XP_016885099.1:n.4236+36G>C
XM_017029611.1:c.4191+36G>C XP_016885100.1:n.4191+36G>C
XR_001755700.2:n.4782+36G>C
NM_138270.4:c.4443+36G>C NP_612114.2:n.4443+36G>C
NM_000489.6:c.4557+36G>C MANE Select NP_000480.3:n.4557+36G>C
NM_138270.5:c.4443+36G>C NP_612114.2:n.4443+36G>C