Canonical Allele Identifier: CA413708623

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76907775C>G (hg19) ; chrX:g.77652285C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652285C>G , CM000685.2:g.77652285C>G	GRCh38
NC_000023.10:g.76907775C>G , CM000685.1:g.76907775C>G	GRCh37
NC_000023.9:g.76794431C>G	NCBI36
NG_008838.2:g.138937G>C
NG_008838.3:g.138985G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4386G>C MANE Select	ENSP00000362441.4:p.Glu1462Asp
ENST00000373344.9:c.4386G>C	ENSP00000362441.4:p.Glu1462Asp
ENST00000395603.7:c.4272G>C	ENSP00000378967.3:p.Glu1424Asp
ENST00000480283.5:c.*4014G>C	ENSP00000480196.1:n.*4014G>C
NM_000489.4:c.4386G>C	NP_000480.3:p.Glu1462Asp
NM_138270.3:c.4272G>C	NP_612114.2:p.Glu1424Asp
XM_005262153.3:c.4383G>C	XP_005262210.2:p.Glu1461Asp
XM_005262154.3:c.4299G>C	XP_005262211.2:p.Glu1433Asp
XM_005262155.3:c.4269G>C	XP_005262212.2:p.Glu1423Asp
XM_005262156.3:c.4221G>C	XP_005262213.2:p.Glu1407Asp
XM_005262157.3:c.4182G>C	XP_005262214.2:p.Glu1394Asp
XM_006724666.2:c.4269G>C	XP_006724729.1:p.Glu1423Asp
XM_006724667.2:c.4107G>C	XP_006724730.1:p.Glu1369Asp
XM_006724668.2:c.4386G>C	XP_006724731.1:p.Glu1462Asp
XR_938400.1:n.4654G>C
NM_000489.5:c.4386G>C	NP_000480.3:p.Glu1462Asp
XM_005262153.5:c.4383G>C	XP_005262210.2:p.Glu1461Asp
XM_005262154.5:c.4299G>C	XP_005262211.2:p.Glu1433Asp
XM_005262155.4:c.4269G>C	XP_005262212.2:p.Glu1423Asp
XM_005262156.4:c.4221G>C	XP_005262213.2:p.Glu1407Asp
XM_005262157.5:c.4182G>C	XP_005262214.2:p.Glu1394Asp
XM_006724666.4:c.4269G>C	XP_006724729.1:p.Glu1423Asp
XM_006724667.3:c.4107G>C	XP_006724730.1:p.Glu1369Asp
XM_006724668.3:c.4386G>C	XP_006724731.1:p.Glu1462Asp
XM_017029601.2:c.4296G>C	XP_016885090.1:p.Glu1432Asp
XM_017029602.1:c.4266G>C	XP_016885091.1:p.Glu1422Asp
XM_017029603.1:c.4218G>C	XP_016885092.1:p.Glu1406Asp
XM_017029604.2:c.4185G>C	XP_016885093.1:p.Glu1395Asp
XM_017029605.1:c.4182G>C	XP_016885094.1:p.Glu1394Asp
XM_017029606.2:c.4155G>C	XP_016885095.1:p.Glu1385Asp
XM_017029607.2:c.4152G>C	XP_016885096.1:p.Glu1384Asp
XM_017029608.2:c.4104G>C	XP_016885097.1:p.Glu1368Asp
XM_017029609.1:c.4068G>C	XP_016885098.1:p.Glu1356Asp
XM_017029610.1:c.4065G>C	XP_016885099.1:p.Glu1355Asp
XM_017029611.1:c.4020G>C	XP_016885100.1:p.Glu1340Asp
XR_001755700.2:n.4611G>C
NM_138270.4:c.4272G>C	NP_612114.2:p.Glu1424Asp
NM_000489.6:c.4386G>C MANE Select	NP_000480.3:p.Glu1462Asp
NM_138270.5:c.4272G>C	NP_612114.2:p.Glu1424Asp