Canonical Allele Identifier: CA413708823

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76907805C>G (hg19) ; chrX:g.77652315C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652315C>G , CM000685.2:g.77652315C>G	GRCh38
NC_000023.10:g.76907805C>G , CM000685.1:g.76907805C>G	GRCh37
NC_000023.9:g.76794461C>G	NCBI36
NG_008838.2:g.138907G>C
NG_008838.3:g.138955G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4356G>C MANE Select	ENSP00000362441.4:p.Glu1452Asp
ENST00000373344.9:c.4356G>C	ENSP00000362441.4:p.Glu1452Asp
ENST00000395603.7:c.4242G>C	ENSP00000378967.3:p.Glu1414Asp
ENST00000480283.5:c.*3984G>C	ENSP00000480196.1:n.*3984G>C
NM_000489.4:c.4356G>C	NP_000480.3:p.Glu1452Asp
NM_138270.3:c.4242G>C	NP_612114.2:p.Glu1414Asp
XM_005262153.3:c.4353G>C	XP_005262210.2:p.Glu1451Asp
XM_005262154.3:c.4269G>C	XP_005262211.2:p.Glu1423Asp
XM_005262155.3:c.4239G>C	XP_005262212.2:p.Glu1413Asp
XM_005262156.3:c.4191G>C	XP_005262213.2:p.Glu1397Asp
XM_005262157.3:c.4152G>C	XP_005262214.2:p.Glu1384Asp
XM_006724666.2:c.4239G>C	XP_006724729.1:p.Glu1413Asp
XM_006724667.2:c.4077G>C	XP_006724730.1:p.Glu1359Asp
XM_006724668.2:c.4356G>C	XP_006724731.1:p.Glu1452Asp
XR_938400.1:n.4624G>C
NM_000489.5:c.4356G>C	NP_000480.3:p.Glu1452Asp
XM_005262153.5:c.4353G>C	XP_005262210.2:p.Glu1451Asp
XM_005262154.5:c.4269G>C	XP_005262211.2:p.Glu1423Asp
XM_005262155.4:c.4239G>C	XP_005262212.2:p.Glu1413Asp
XM_005262156.4:c.4191G>C	XP_005262213.2:p.Glu1397Asp
XM_005262157.5:c.4152G>C	XP_005262214.2:p.Glu1384Asp
XM_006724666.4:c.4239G>C	XP_006724729.1:p.Glu1413Asp
XM_006724667.3:c.4077G>C	XP_006724730.1:p.Glu1359Asp
XM_006724668.3:c.4356G>C	XP_006724731.1:p.Glu1452Asp
XM_017029601.2:c.4266G>C	XP_016885090.1:p.Glu1422Asp
XM_017029602.1:c.4236G>C	XP_016885091.1:p.Glu1412Asp
XM_017029603.1:c.4188G>C	XP_016885092.1:p.Glu1396Asp
XM_017029604.2:c.4155G>C	XP_016885093.1:p.Glu1385Asp
XM_017029605.1:c.4152G>C	XP_016885094.1:p.Glu1384Asp
XM_017029606.2:c.4125G>C	XP_016885095.1:p.Glu1375Asp
XM_017029607.2:c.4122G>C	XP_016885096.1:p.Glu1374Asp
XM_017029608.2:c.4074G>C	XP_016885097.1:p.Glu1358Asp
XM_017029609.1:c.4038G>C	XP_016885098.1:p.Glu1346Asp
XM_017029610.1:c.4035G>C	XP_016885099.1:p.Glu1345Asp
XM_017029611.1:c.3990G>C	XP_016885100.1:p.Glu1330Asp
XR_001755700.2:n.4581G>C
NM_138270.4:c.4242G>C	NP_612114.2:p.Glu1414Asp
NM_000489.6:c.4356G>C MANE Select	NP_000480.3:p.Glu1452Asp
NM_138270.5:c.4242G>C	NP_612114.2:p.Glu1414Asp